ENSMUSG00000028023


Mus musculus

Features
Gene ID: ENSMUSG00000028023
  
Biological name :Pitx2
  
Synonyms : P97474 / paired-like homeodomain transcription factor 2 / Pitx2
  
Possible biological names infered from orthology : paired like homeodomain 2 / Q99697
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: G3
Gene start: 129199878
Gene end: 129219591
  
Corresponding Affymetrix probe sets: 10495976 (MoGene1.0st)   1424797_a_at (Mouse Genome 430 2.0 Array)   1450482_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000139328
Ensembl peptide - ENSMUSP00000134301
Ensembl peptide - ENSMUSP00000134692
Ensembl peptide - ENSMUSP00000029657
Ensembl peptide - ENSMUSP00000047359
Ensembl peptide - ENSMUSP00000101990
Ensembl peptide - ENSMUSP00000133756
NCBI entrez gene - 18741     See in Manteia.
MGI - MGI:109340
RefSeq - XM_006501133
RefSeq - NM_001042502
RefSeq - NM_001042504
RefSeq - NM_001286942
RefSeq - NM_001287048
RefSeq - NM_011098
RefSeq - XM_006501131
RefSeq - XM_006501132
RefSeq Peptide - NP_035228
RefSeq Peptide - NP_001273977
RefSeq Peptide - NP_001035969
RefSeq Peptide - NP_001273871
RefSeq Peptide - NP_001035967
swissprot - Q8BS64
swissprot - B1VD84
swissprot - G3X8Y9
swissprot - G3UZ11
swissprot - P97474
swissprot - Q6DIA6
Ensembl - ENSMUSG00000028023
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pitx2ENSDARG00000036194Danio rerio
 PITX2ENSGALG00000042492Gallus gallus
 PITX2ENSG00000164093Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pitx1 / P70314 / paired-like homeodomain transcription factor 1 / P78337* / paired like homeodomain 1*ENSMUSG0000002150662
Pitx3 / O35160 / Pituitary homeobox 3 / O75364* / paired like homeodomain 3*ENSMUSG0000002522953
Dmbx1 / Q91ZK4 / Diencephalon/mesencephalon homeobox protein 1 / Q8NFW5* / diencephalon/mesencephalon homeobox 1*ENSMUSG0000002870724
Prrx2 / paired related homeobox 2 / Q99811*ENSMUSG0000003947623
Prrx1 / P63013 / Paired mesoderm homeobox protein 1 / P54821* / paired related homeobox 1*ENSMUSG0000002658622
Otx2 / orthodenticle homeobox 2 / P32243*ENSMUSG0000002184822
Crx / O54751 / Cone-rod homeobox protein / O43186* / cone-rod homeobox*ENSMUSG0000004157821
Otx1 / P80205 / Homeobox protein OTX1 / P32242* / orthodenticle homeobox 1*ENSMUSG0000000591720
Gsc2 / goosecoid homeobox 2 / O15499*ENSMUSG0000002273815
Prop1 / P97458 / Homeobox protein prophet of Pit-1 / O75360* / PROP paired-like homeobox 1*ENSMUSG0000004454215
Mixl1 / Q9WUI0 / Homeobox protein MIXL1 / Q9H2W2* / Mix paired-like homeobox*ENSMUSG0000002649714
Gsc / Q02591 / Homeobox protein goosecoid / P56915* / goosecoid homeobox*ENSMUSG0000002109514


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR003654  OAR domain
 IPR009057  Homeobox-like domain superfamily
 IPR016233  Homeobox protein Pitx/unc30
 IPR017970  Homeobox, conserved site
 IPR020479  Homeobox domain, metazoa


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISO
 biological_processGO:0001569 branching involved in blood vessel morphogenesis IMP
 biological_processGO:0001570 vasculogenesis IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001764 neuron migration IMP
 biological_processGO:0002074 extraocular skeletal muscle development IMP
 biological_processGO:0003171 atrioventricular valve development IMP
 biological_processGO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis IMP
 biological_processGO:0003350 pulmonary myocardium development IMP
 biological_processGO:0006355 regulation of transcription, DNA-templated ISO
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0007519 skeletal muscle tissue development IMP
 biological_processGO:0007520 myoblast fusion IDA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0008585 female gonad development IEA
 biological_processGO:0009653 anatomical structure morphogenesis IMP
 biological_processGO:0009725 response to hormone IEA
 biological_processGO:0009887 animal organ morphogenesis IMP
 biological_processGO:0016055 Wnt signaling pathway IDA
 biological_processGO:0021763 subthalamic nucleus development IMP
 biological_processGO:0021855 hypothalamus cell migration IMP
 biological_processGO:0021983 pituitary gland development IMP
 biological_processGO:0030182 neuron differentiation IEA
 biological_processGO:0030324 lung development IMP
 biological_processGO:0030334 regulation of cell migration IMP
 biological_processGO:0031076 embryonic camera-type eye development IMP
 biological_processGO:0033189 response to vitamin A IEA
 biological_processGO:0035116 embryonic hindlimb morphogenesis IGI
 biological_processGO:0035886 vascular smooth muscle cell differentiation IMP
 biological_processGO:0035993 deltoid tuberosity development IMP
 biological_processGO:0042127 regulation of cell proliferation IMP
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IEA
 biological_processGO:0042476 odontogenesis IEA
 biological_processGO:0043010 camera-type eye development IEA
 biological_processGO:0043388 positive regulation of DNA binding IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048536 spleen development IMP
 biological_processGO:0048557 embryonic digestive tract morphogenesis IMP
 biological_processGO:0048738 cardiac muscle tissue development IMP
 biological_processGO:0055007 cardiac muscle cell differentiation IMP
 biological_processGO:0055009 atrial cardiac muscle tissue morphogenesis IMP
 biological_processGO:0055015 ventricular cardiac muscle cell development IMP
 biological_processGO:0055123 digestive system development IMP
 biological_processGO:0060412 ventricular septum morphogenesis IMP
 biological_processGO:0060460 left lung morphogenesis IMP
 biological_processGO:0060577 pulmonary vein morphogenesis IMP
 biological_processGO:0060578 superior vena cava morphogenesis IMP
 biological_processGO:0061031 endodermal digestive tract morphogenesis IMP
 biological_processGO:0061072 iris morphogenesis IEA
 biological_processGO:0061325 cell proliferation involved in outflow tract morphogenesis IMP
 biological_processGO:0070986 left/right axis specification IMP
 biological_processGO:2000288 positive regulation of myoblast proliferation IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005737 cytoplasm IDA
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISO
 molecular_functionGO:0001085 RNA polymerase II transcription factor binding ISO
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding IEA
 molecular_functionGO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding ISO
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0031490 chromatin DNA binding IDA
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0042803 protein homodimerization activity ISO
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0051219 phosphoprotein binding ISO


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Hoxa11tm1Ssp/Hoxa11+,Hoxd11tm1Mrc/Hoxd11+
Genetic Background: mixed

Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0000118 arrest of tooth development "failure of differentiation of the teeth" [J:18378]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000120 malocclusion "perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth" [J:61509]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000162 lordosis "anteriorly convex curvature of the spine, "saddle back" " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62022]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pax3tm5Buck/Pax3+
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm2Sac
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm1.1Dmm
Genetic Background: B6.129P2-Pitx2tm1.1Dmm

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
Show

Allelic Composition: Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0000272 abnormal aorta morphology "structural anomaly of the main trunk of the systemic arteries" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0000277 abnormal heart shape "malformation of the form or the patterning of the heart" [J:18048]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0000279 ventricular hypoplasia "reduction in cell number of one or both of the two lower chambers of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61790]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000281 abnormal ventricular septum morphology "abnormality in the wall between the ventricles of the heart, usually incomplete closure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000282 abnormal atrial septum morphology "abnormality in the wall between the atria of the heart, usually incomplete closure " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
Show

Allelic Composition: Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0000297 abnormal endocardial cushion morphology "malformation of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal; these mounds eventually fuse to form the valves between the right and left atrioventricular orifices" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0000299 failure of endocardial cushion closure "failure of the mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal to fuse to form the valves between the right and left atrioventricular orifices" [J:29971]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0000455 abnormal maxilla morphology "malformation of the upper bony framework of the mouth where the superior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hoxa11tm1Ssp/Hoxa11+,Hoxd11tm1Mrc/Hoxd11+
Genetic Background: mixed

 MP:0000458 abnormal mandible morphology "malformation of the lower bony framework of the mouth where the inferior teeth are held" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hoxa11tm1Ssp/Hoxa11+,Hoxd11tm1Mrc/Hoxd11+
Genetic Background: mixed

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000477 abnormal intestine morphology "malformation of the digestive tube passing from the stomach to the anus" [J:48968]
Show

Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0000531 right pulmonary isomerism "bilaterally symmetric right lung pattern (or altered asymmetric patterning of the lung)" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:58530]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm1Jfm/Pitx2+
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0000556 abnormal hindlimb morphology "malformation of the entire posterior extremities" [MGI:tc]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pitx1tm1Jdr/Pitx1tm1Jdr,Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000565 oligodactyly "congenital condition in which some digits or parts of digits are missing" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Ptprstm1Mtr/Ptprstm1Mtr
Genetic Background: involves: 129/Sv * BALB/c

 MP:0000644 dextrocardia "cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0000689 abnormal spleen morphology "atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000692 small spleen "decreased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0000694 spleen hypoplasia "small size due to reduced cell number in the spleen" [J:43971]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0000778 abnormal tract 
Show

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm2Sac
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm1.1Sac,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm1.1Sac/Pitx2tm2Sac,H2afvTg(Wnt1-cre)11Rth/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
Show

Allelic Composition: Pitx2tm1.1Sac/Pitx2tm2Sac,H2afvTg(Wnt1-cre)11Rth/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001299 abnormal eye distance/ position "abnormal placement of the eyes in relation to each other or in relation to other craniofacial structures" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm2Sac
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001303 abnormal lens morphology "malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001306 small lens "reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001312 abnormal cornea morphology "malformation or absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001314 corneal opacity "complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0001317 abnormal pupil morphology "structural anomaly of the central circular aperture of the iris through which light rays enter the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001319 irregularly shaped pupil "shape defects in the aperture of the iris through which light rays enter the eye, usually circular " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0001324 abnormal eye pigmentation "change in the normal black pigmentation of the eye to another color, or lack of color" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1.1Sac/Pitx2tm2Sac,H2afvTg(Wnt1-cre)11Rth/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0001333 absent optic nerve "absence of the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1.1Sac/Pitx2tm2Sac,H2afvTg(Wnt1-cre)11Rth/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
Show

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0001636 irregular heartbeat "uneven timing of heart contraction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33038]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0001672 abnormal embryogenesis/ development "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cdkn2atm4Rdp/Cdkn2a+,Krastm4Tyj/Kras+,Tg(Pdx1-cre)89.1Dam/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA * FVB/N

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm1.1Dmm
Genetic Background: B6.129P2-Pitx2tm1.1Dmm

 MP:0001680 abnormal mesoderm development "failure or abnormality in the formation of the mesoderm during gastrulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001700 abnormal embryo turning "atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (Mus:E8.5-E9.5) such that the curvature of the entire trunk region is reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm2Sac
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm1.1Dmm
Genetic Background: B6.129P2-Pitx2tm1.1Dmm

 MP:0001701 incomplete embryo turning "arrest of the axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (E8.5-E9.5)" [J:62571]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Aprttm1Vri/Aprttm1Vri
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0001944 abnormal pancreas morphology "malformation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0002084 abnormal developmental patterning "abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptprstm1Mtr/Ptprstm1Mtr
Genetic Background: involves: 129/Sv * BALB/c

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ptprstm1Mtr/Ptprstm1Mtr
Genetic Background: involves: 129/Sv * BALB/c

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0002100 abnormal tooth morphology "atypical size, shape or hard tissue structure of the teeth " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cdkn2atm4Rdp/Cdkn2a+,Krastm4Tyj/Kras+,Tg(Pdx1-cre)89.1Dam/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA * FVB/N

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ahrtm1Gonz/Ahrtm1Gonz
Genetic Background: involves: 129S4/SvJae * C57BL/6J

 MP:0002187 abnormal fibula morphology "malformation of the lateral and smaller bone of the lower limb" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0002659 pituitary gland hypoplasia "decreased size of pituitary gland due to decreased cell number" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm2Sac
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002672 abnormal branchial arch artery morphology "malformation of the vessels formed within the five pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0002689 abnormal molar morphology "structural defect of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface" [il:Ira Lu , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0002725 abnormal vein morphology "malformation of the blood vessels that carry blood towards the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0002728 absent tibia "missing the medial and larger of the two bones of the lower leg" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx1tm1Jdr/Pitx1tm1Jdr,Pitx2tm1Sac/Pitx2tm1Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002745 abnormal atrioventricular valve morphology "malformation of the valves that gate the flow of blood from the atria into the ventricles" [J:82728, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0002766 situs inversus "lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0002823 abnormal rib development "anomalous formation of the bones forming the bony wall of the chest" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:84754]
Show

Allelic Composition: Foxc2tm1Blh/Foxc2tm1Blh
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002951 small thyroid gland "reduced size of the endocrine gland located in the front and to the sides of the upper part of the trachea, and which secretes thyroid hormone and calcitonin " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0003052 omphalocele "protrusion of abdominal viscera at the base of the umbilical cord, with a covering membranous sac of peritoneum-amnion" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003, ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0003091 abnormal cell migration "defect in the movement of cells during developmental processes" [smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0003092 reduced corneal stroma thickness "reduced width of the lamellated connective tissue layer of the cornea" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:81616]
Show

Allelic Composition: Pitx2tm1.1Sac/Pitx2tm2Sac,H2afvTg(Wnt1-cre)11Rth/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0003105 abnormal heart atrium morphology "structural anomaly of one or both of the two upper chambers of the heart " [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0003119 abnormal digestive system development "dysmorphology of the organ system that converts ingested food to nutrients and energy" [smb:Susan M. Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0003237 abnormal lens epithelium morphology "malformation in the one or more of the layers of epithelial cells in the lens" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93301]
Show

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003271 abnormal duodenum morphology "malformation in the first division of the small intestine that extends from the pyloris to the junction with the jejunum " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0003384 abnormal ventral body wall "malformation in the anterior portion of a human body or the lower surface of an animal body comprised of ectoderm and mesoderm layers that encloses the body cavity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003686 abnormal eye muscle morphology "malformation of the muscles of the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0003687 abnormal intraocular muscle morphology "malformation of the smooth muscles within the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003816 abnormal pituitary gland development "malformation or incomplete differentiation of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:51160]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003818 abnormal eye muscle development "malformation or arrest of differentiation of the muscles of the eye" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:51160]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1.1Sac/Pitx2tm2Sac,H2afvTg(Wnt1-cre)11Rth/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0004110 transposition of great arteries "cardiovascular malformation in which the aorta arises from the right ventricle while the pulmonary artery arises from the left ventricle" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0004113 abnormal aortic arch morphology "structural anomoly of the portion of the descending aorta proceeding from the arch of the aorta and extending to the diaphragm " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0004158 right aortic arch "the aortic arch lies to the right of the trachea and esophagus; results from persistance of the entire right dorsal arch and involution of a segment of the left arch" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0004159 double aortic arch "defect in which the main aorta tube splits into large left and right branches (right and left aortic arches), encircling the trachea and esophagus, before becoming one tube to go to the lower body " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0004163 abnormal adenophysis morphology "any malformation or absence of the anterior part of the pituitary that secretes a variety of hormones; its function is regulated by the hypothalamus" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0004221 abnormal iridocorneal angle "any structural abnormality of the acute angle occurring between the iris and the cornea at the periphery of the anterior chamber of the eye" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004224 absent trabecular meshwork "absence of the pore-like structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates" [MESH:A09.371.060.932, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004268 abnormal optic stalk morphology "any structural anomaly of the narrow, proximal portion of the optic vesicle which connects the embryonic eye and forebrain" [ISBN:0-914294-08-3 "Gray s Anatomy"]
Show

Allelic Composition: Pitx2tm1.1Sac/Pitx2tm2Sac,H2afvTg(Wnt1-cre)11Rth/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0004283 absent corneal endothelium "absence of the single layer of large flattened cells that cover the surface of the cornea" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0004349 absent femur "missing the long bone of the thigh" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pitx1tm1Jdr/Pitx1tm1Jdr,Pitx2tm1Sac/Pitx2tm1Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004575 small limb buds "reduced size of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs" [MESH:National Library of Medicine_Medical Subject Headings]
Show

Allelic Composition: Pitx1tm1Jdr/Pitx1tm1Jdr,Pitx2tm1Sac/Pitx2tm1Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Pitx1tm1Jdr/Pitx1tm1Jdr,Pitx2tm1Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004624 abnormal thoracic cage "any structural anomaly of the bony and cartilaginous structure enclosing the thoracic cavity, consisting of the thoracic vertebrae, ribs, costal cartilages, and sternum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0004673 splayed ribs "any deviation from the normal curvature of the ribs such that the ribs are turned outward " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pitx2tm1.1Sac/Pitx2tm2Sac,H2afvTg(Wnt1-cre)11Rth/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0005122 increased circulating thyroid-stimulating hormone level "greater than expected blood concentration of the hormone that stimulates the growth and function of the thyroid gland" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ccbe1tm1Mlkn/Ccbe1tm1Mlkn
Genetic Background: either: B6.129-Ccbe1tm1Mlkn or (involves: 129 * C57BL/6)

 MP:0005130 decreased follicle stimulating hormone level "less than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0005132 decreased luteinizing hormone level "lower than normal concentration of LH " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0005205 abnormal eye anterior chamber "anomaly of the space in the eye, filled with aqueous humor, and bounded anteriorly by the cornea and a small portion of the sclera and posteriorly by a small portion of the ciliary body, the iris, and part of the crystalline lens" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0005247 abnormal extraocular muscle morphology "structural anomaly of any of the striated muscles that move the eye and include: superior rectus, inferrior rectus, medial rectus, lateral rectus, superior oblique, inferior oblique, retractor bulbi" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005294 abnormal heart ventricle morphology "structural anomaly of one or both of the two lower chambers of the heart " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0005301 abnormal corneal endothelium morphology "anomalous structure of the single layer of large flattened cells that cover the surface of the cornea" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0005545 abnormal lens development "aberrant formation of the transparent structure of the eye responsible for focusing light rays" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006000 abnormal corneal epithelium "malformation in the one or more of the layers of epithelial cells covering the front of the cornea" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006009 abnormal neuronal migration "defective or impaired movement of immature neurons from germinal zones to specific positions where they will reside as they mature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1.1Dmm/Pitx2tm2Sac
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006061 right atrial isomerism "altered asymmetric patterning of the atria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0006062 abnormal vena cava morphology "structural malformation of either of the two largest veins in the body " [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0006064 abnormal superior vena cava morphology "structural malformation in the principal vein draining blood from the upper portion of the body" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0006065 abnormal heart position "the heart is displaced from the normal left-sided position and/or orientation" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006107 abnormal atrioventricular canal morphology "malformation or anomaly in development of the common canal connecting the primordial atrium and ventricle" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93610]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0006126 abnormal outflow tract development "anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0006198 enophthalmos "sinking or retraction of the eye back into the socket" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0006226 iris hypoplasia "less than the normal number of cells in the iris" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0006240 anisocoria "unequal size of pupils" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006241 abnormal placement of pupils "abnormal location of the pupil so that it is not in the center of the iris" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0006355 abnormal sixth branchial arch artery morphology "any structural anomaly of the vessels formed within the sixth pair of branchial arches in embryogenesis" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0008259 abnormal optic disc morphology "any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0008329 decreased somatotroph cell number "reduced number of an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin" [CL:0000295, MESH:A06.407.747.608.937]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0008336 absent gonadotrophs "absence of the anterior pituitary cells that can produce both follicle stimulating hormone (FSH) and luteinizing hormone (LH)" [MESH:A06.407.747.608.750]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0008338 decreased thyrotroph cell number "reduced number of an anterior pituitary cell that produces thyroid-stimulating hormone" [MESH:A06.407.747.608.968]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0008365 adenohypophysis hypoplasia "underdevelopment or reduced size, usually due to a reduced cell number, of the anterior lobe of the pituitary gland" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fastm1Osa/Fastm1Osa,Gzmatm1Simn/Gzmatm1Simn,Gzmbtm1Ley/Gzmbtm1Ley
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

 MP:0008543 atrial fibrillation "asynchronous contraction or quivering of individual cardiac muscle fibers in the atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0008726 enlarged left atrium "increased size of the left upper chamber of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0009490 abnormal heart left atrium auricular region morphology "any structural anomaly of the small conical muscular projection connected to the left atrium of the heart" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Grm6nob4/Grm6nob4
Genetic Background: involves: C57BL/6J

 MP:0009937 abnormal neuron differentiation "abnormal growth or development of the cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0010052 increased grip strength "greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0010392 prolonged QRS complex duration "increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2+
Genetic Background: involves: 129S4/SvJaeSor

 MP:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
Show

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0010403 atrial septal defect "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0010406 absent atrial septum "absence of the thin membranous structure between the two heart atria" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010412 atrioventricular septal defect "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0010422 heart right ventricle hypoplasia "underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Pitx2tm1.1Mbf/Pitx2tm1.1Mbf,Mesp1tm2(cre)Ysa/Mesp1+
Genetic Background: involves: C57BL/6 * CBA

 MP:0010425 abnormal heart and great vessel attachment "any anomaly in the in the position or pattern of the connection site of the heart to any of the primary vessels, including the superior vena cavae, inferior vena cavae, pulmonary artery, pulmonary veins, and aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0010426 abnormal heart and great artery attachment "any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

 MP:0010437 absent coronary sinus "absence of the short trunk that recieves most of the cardiac veins carrying the blood from the myocardium and delivers it to the right atrium" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0010440 anomalous pulmonary venous connection "abnormal development and attachment of the four pulmonary veins that normally attach to the left atrium of the heart, resulting in either partial or complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the superior or inferior vena cava, the innominate vein, the coronary sinus or the left subclavian artery" [http://emedicine.medscape.com]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0010454 abnormal truncus arteriosis septation "anomaly in the process of dividing the common arterial trunk arising out of both heart ventricles to divide into the aorta and pulmonary artery during development" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0010459 supravalvar pulmonary trunk stenosis "diffuse constriction or narrowing of the pulmonary trunk distal to the pulmonary valve" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0010551 abnormal coronary vessel morphology "any structural anomaly of any of the arteries or veins that supply blood to the heart or return blood from the heart muscles to the circulation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0010607 common atrioventricular valve "the presence of a single atrioventricular valve instead of both a mitral and tricuspid valve, most commonly due to incomplete or failure of fetal atrioventricular canal septation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0010668 abnormal hepatic portal vein morphology "any structural anomaly of the wide short vein formed from the confluence of the superior mesenteric, inferior mesenteric and splenic veins, and then divides into the right and left branches which ramify with the liver; the hepatic portal vein carries venous blood from the GI tract, spleen and pancreas to the liver" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0010710 absent sclera "absence of the fibrous, outer envelope of the eyeball, covering it entirely excepting the segment covered anteriorly by the cornea" [MESH:A09.371.784]
Show

Allelic Composition: Pitx2tm1.1Sac/Pitx2tm2Sac,H2afvTg(Wnt1-cre)11Rth/?,Gt(ROSA)26Sortm1Sor/?
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA

 MP:0010807 abnormal stomach position or orientation "the stomach is displaced from the normal left-sided position and/or orientation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm2Sac/Pitx2+,Tbx1tm1Bem/Tbx1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Genetic Background: C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H

 MP:0011108 partial embryonic lethality during organogenesis "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011109 partial lethality throughout fetal growth and development "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

Allelic Composition: Pitx2tm1Jfm/Pitx2tm2.1Jfm
Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

 MP:0011569 abnormal azygos vein morphology "any structural anomaly of the unpaired vein which in humans arises from the right ascending lumbar vein or the vena cava, enters the thorax through the aortic orifice in the diaphragm, and terminates in the superior vena cava; unlike humans, mice have a single and left-sided azygos vein that develops from the paired embryonic cardinal venous system and drains most of the right and left thoracic walls into the left anterior vena cava" [MGI:anna]
Show

Allelic Composition: Pitx2tm1Hmd/Pitx2tm1Hmd
Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

 MP:0011667 double outlet right ventricle with atrioventricular septal defect "a form of DORV in which there is also a complete atrioventricular canal" [MGI:csmith]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0012273 axial mesoderm hypoplasia "underdevelopment or reduced size, usually due to a reduced number of cells, of the part of the middle of the three primary germ layers of the embryo which includes the prechordal mesoderm and the chordamesoderm and gives rise to the prechordal plate and to the notochord" [MGI:anna]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0012535 abnormal optic fissure closure "failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk; failure or late closure of the optic fissure prevents the establishment of normal fetal intraocular pressure and can result in microphthalmia associataed with colobomas" [MGI:anna]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0012536 delayed optic fissure closure "late onset of the initiation and/or completion of closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its rim and posteriorly along the optic stalk" [MGI:anna]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0013169 small hindlimb buds "reduced size of the limb bud that normally develops into a hindlimb (usually the leg or back limb in mammalian species)" [MGI:anna]
Show

Allelic Composition: Pitx1tm1Jdr/Pitx1tm1Jdr,Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0013337 abnormal adenohypophysis development "aberrant formation or incomplete differentiation of the anterior lobe of the pituitary gland which arises as a pouch-like outgrowth of ectoderm known as the hypophyseal (Rathke s) pouch from the dorsal midline roof of the stomodeum (primitive oral cavity); the hypophyseal pouch grows toward the brain and the neurohypophyseal bud; as the hypophyseal pouch and the infundibulum make contact, the hypophyseal pouch loses its connection with the pharynx, creating a hollow ball of cells that lies inferior to the floor of the diencephalon posterior to the optic chiasm; these cells undergo division, the central chamber gradually disappears, and this endocrine mass becomes the anterior pituitary gland; the fully developed adenohypophysis consists of a glandular pars distalis, a thin proximal extension called the pars tuberalis, and a narrow pars intermedia" [MGI:Anna]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0013349 small Rathke s pouch "reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland" [MGI:Anna]
Show

Allelic Composition: Ndst1tm1.1Grob/Ndst1tm1.1Grob,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Pitx1tm1Jdr/Pitx1tm1Jdr,Pitx2tm1Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Pitx1tm1Jdr/Pitx1+,Pitx2tm1Sac/Pitx2tm1Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0013351 abnormal Rathke s pouch development "any anomaly in the formation of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland" [MGI:Anna]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Pitx1tm1Jdr/Pitx1tm1Jdr,Pitx2tm1Sac/Pitx2tm1Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0013352 abnormal Rathke s pouch apoptosis "any change in the timing or number of Rathke s pouch cells undergoing programmed cell death" [MGI:Anna]
Show

Allelic Composition: Pitx2tm2Sac/Pitx2tm2Sac
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0013742 absent ciliary body "absence of the thickened portion of the vascular tunic, which lies between the choroid and the iris" [ISBN:0-683-40008-8, MGI:Anna]
Show

Allelic Composition: Lmx1btm1Rjo/Lmx1btm4.1Rjo,Pitx2tm4(cre)Jfm/Pitx2+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0030026 small Meckel s cartilage "reduced size of the cartilage bar in the mandibular arch that forms a temporary supporting structure in the embryonic mandible and gives rise to middle ear bones and sphenomandibular and anterior malleolar ligaments" [MGI:anna]
Show

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0030038 abnormal periorbital region morphology "any structural anomaly of the region around the eye socket" [MGI:anna]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0030039 abnormal facial muscle morphology "any structural anomaly of any of the striated skeletal muscles innervated by the facial nerve (cranial nerve VII) that, among other things, control facial expression; facial muscles are derived from the second branchial/pharyngeal arch" [https://en.wikipedia.org/wiki/Facial_muscles]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0030171 absent extraocular muscles "missing the striated muscles that are located within the orbit but are extrinsic and separate from the eyeball itself and control the movements of the eyeball and the superior eyelid" [MGI:anna]
Show

Allelic Composition: Pitx2tm1Kki/Pitx2tm1Kki
Genetic Background: involves: 129P2/OlaHsd * C57BL

Allelic Composition: Pitx2tm1Jfm/Pitx2tm1Jfm
Genetic Background: involves: 129S4/SvJaeSor

 MP:0030541 misaligned incisors "abnormal alignment of the upper and lower incisor teeth, usually resulting in malocclusion; in gnawing rodents, where incisors are rootless and grow continually, signs of incisor malocclusion include uneven wear patterns, sloping of the cutting edges, fractured teeth, altered pigmentation, and obvious pathological overgrowth of the incisors" [HP:0011062, https://books.google.com/books?isbn=0323394302, PMID:19622764]
Show

Allelic Composition: Rb1tm1Brd/Rb1tm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Pitx2tm2Sac/Pitx2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0030579 thoracoabdominoschisis "a congenital fissure of both the thoracic and abdominal walls" [https://www.ncbi.nlm.nih.gov/medgen/672583]
Show

Allelic Composition: Pitx2tm1Rsd/Pitx2tm1Rsd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr