ENSMUSG00000042258


Mus musculus

Features
Gene ID: ENSMUSG00000042258
  
Biological name :Isl1
  
Synonyms : Insulin enhancer protein ISL-1 / Isl1 / P61372
  
Possible biological names infered from orthology : ISL LIM homeobox 1 / P61371
  
Species: Mus musculus
  
Chr. number: 13
Strand: -1
Band: D2.2
Gene start: 116298281
Gene end: 116309689
  
Corresponding Affymetrix probe sets: 10412335 (MoGene1.0st)   1422720_at (Mouse Genome 430 2.0 Array)   1450723_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000044879
Ensembl peptide - ENSMUSP00000135567
NCBI entrez gene - 16392     See in Manteia.
MGI - MGI:101791
RefSeq - XM_017315398
RefSeq - NM_021459
RefSeq - XM_006517533
RefSeq Peptide - NP_067434
swissprot - P61372
swissprot - A2RSV5
Ensembl - ENSMUSG00000042258
  

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
 isl1ENSDARG00000004023Danio rerio
 ISL1ENSGALG00000014884Gallus gallus
 ISL1ENSG00000016082Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Isl2 / Q9CXV0 / Insulin enhancer protein ISL-2 / Q96A47* / ISL LIM homeobox 2*ENSMUSG0000003231875
Lmx1a / Q9JKU8 / LIM homeobox transcription factor 1-alpha / Q8TE12*ENSMUSG0000002668631
Lhx5 / P61375 / LIM homeobox protein 5 / Q9H2C1* / LIM homeobox 5*ENSMUSG0000002959530
Lmx1b / LIM homeobox transcription factor 1 beta / O60663*ENSMUSG0000003876529
Lhx3 / P50481 / LIM homeobox protein 3 / Q9UBR4* / LIM homeobox 3*ENSMUSG0000002693428
Lhx9 / Q9WUH2 / LIM/homeobox protein Lhx9 / Q9NQ69* / LIM homeobox 9*ENSMUSG0000001923028
Lhx1 / P63006 / LIM/homeobox protein Lhx1 / P48742* / LIM homeobox 1*ENSMUSG0000001869828
Lhx6 / Q9R1R0 / Mus musculus LIM homeobox protein 6 (Lhx6), transcript variant 5, mRNA. / Q9UPM6* / LIM homeobox 6*ENSMUSG0000002689027
Lhx2 / Q9Z0S2 / LIM/homeobox protein Lhx2 / P50458* / LIM homeobox 2*ENSMUSG0000000024727
Lhx8 / O35652 / LIM/homeobox protein Lhx8 / Q68G74* / LIM homeobox 8*ENSMUSG0000009622526
Lhx4 / P53776 / LIM/homeobox protein Lhx4 / Q969G2* / LIM homeobox 4*ENSMUSG0000002646826
Lmo4 / P61969 / LIM domain transcription factor LMO4 / P61968* / LIM domain only 4*ENSMUSG0000002826616
Lmo1 / Q924W9 / Rhombotin-1 / P25800* / LIM domain only 1*ENSMUSG0000003611115
Lmo3 / Q8BZL8 / Mus musculus LIM domain only 3 (Lmo3), transcript variant 2, mRNA. / Q8TAP4* / LIM domain only 3*ENSMUSG0000003022614
Lmo2 / P25801 / Rhombotin-2 / P25791* / LIM domain only 2*ENSMUSG0000003269813


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR001781  Zinc finger, LIM-type
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001755 neural crest cell migration IGI
 biological_processGO:0003007 heart morphogenesis IGI
 biological_processGO:0003139 secondary heart field specification ISO
 biological_processGO:0003148 outflow tract septum morphogenesis IGI
 biological_processGO:0003151 outflow tract morphogenesis IGI
 biological_processGO:0003203 endocardial cushion morphogenesis IGI
 biological_processGO:0003215 cardiac right ventricle morphogenesis IGI
 biological_processGO:0003266 regulation of secondary heart field cardioblast proliferation IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0008284 positive regulation of cell proliferation IDA
 biological_processGO:0010468 regulation of gene expression IMP
 biological_processGO:0010575 positive regulation of vascular endothelial growth factor production IDA
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IEA
 biological_processGO:0021520 spinal cord motor neuron cell fate specification IGI
 biological_processGO:0021522 spinal cord motor neuron differentiation IMP
 biological_processGO:0021524 visceral motor neuron differentiation IGI
 biological_processGO:0021559 trigeminal nerve development IMP
 biological_processGO:0021983 pituitary gland development IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030182 neuron differentiation IMP
 biological_processGO:0031016 pancreas development IMP
 biological_processGO:0031103 axon regeneration IEA
 biological_processGO:0031290 retinal ganglion cell axon guidance IMP
 biological_processGO:0032024 positive regulation of insulin secretion IEA
 biological_processGO:0032725 positive regulation of granulocyte macrophage colony-stimulating factor production IDA
 biological_processGO:0032729 positive regulation of interferon-gamma production IDA
 biological_processGO:0032730 positive regulation of interleukin-1 alpha production IDA
 biological_processGO:0032731 positive regulation of interleukin-1 beta production IDA
 biological_processGO:0032735 positive regulation of interleukin-12 production IDA
 biological_processGO:0032755 positive regulation of interleukin-6 production IDA
 biological_processGO:0032760 positive regulation of tumor necrosis factor production IDA
 biological_processGO:0033147 negative regulation of intracellular estrogen receptor signaling pathway IEA
 biological_processGO:0035066 positive regulation of histone acetylation IMP
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IDA
 biological_processGO:0043388 positive regulation of DNA binding IDA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IMP
 biological_processGO:0045597 positive regulation of cell differentiation IMP
 biological_processGO:0045665 negative regulation of neuron differentiation IGI
 biological_processGO:0045766 positive regulation of angiogenesis IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated ISS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISO
 biological_processGO:0048663 neuron fate commitment IGI
 biological_processGO:0048665 neuron fate specification IMP
 biological_processGO:0048762 mesenchymal cell differentiation IMP
 biological_processGO:0048880 sensory system development IMP
 biological_processGO:0048935 peripheral nervous system neuron development IGI
 biological_processGO:0048936 peripheral nervous system neuron axonogenesis IMP
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IEA
 biological_processGO:0050728 negative regulation of inflammatory response IMP
 biological_processGO:0055010 ventricular cardiac muscle tissue morphogenesis IGI
 biological_processGO:0060037 pharyngeal system development IGI
 biological_processGO:0060379 cardiac muscle cell myoblast differentiation IMP
 biological_processGO:0060384 innervation IMP
 biological_processGO:0060413 atrial septum morphogenesis IGI
 biological_processGO:0060913 cardiac cell fate determination ISO
 biological_processGO:0071385 cellular response to glucocorticoid stimulus IEA
 biological_processGO:0071657 positive regulation of granulocyte colony-stimulating factor production IDA
 biological_processGO:0090074 negative regulation of protein homodimerization activity IEA
 biological_processGO:0090090 negative regulation of canonical Wnt signaling pathway IGI
 biological_processGO:1901258 positive regulation of macrophage colony-stimulating factor production IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0001102 RNA polymerase II activating transcription factor binding ISO
 molecular_functionGO:0001158 enhancer sequence-specific DNA binding ISO
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016922 nuclear receptor binding IEA
 molecular_functionGO:0030331 estrogen receptor binding IEA
 molecular_functionGO:0043425 bHLH transcription factor binding ISO
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:1990841 promoter-specific chromatin binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000029 abnormal malleus morphology "structural anomaly in the largest of the three auditory ossicles, which resembles a club or hammer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 MP:0000255 vasculature congestion "obstruction of the normal flux of blood within the blood vessel network" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Rspo3tm1Arte/Rspo3tm1Arte,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000265 atretic vasculature "absence or disorganization of vasculature" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62571]
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Allelic Composition: Psmb8tm1Hjf/Psmb8tm1Hjf
Genetic Background: involves: 129P2/OlaHsd

 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

Allelic Composition: Hand2tm1Dsr/Hand2tm2.1Dsr,Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0000277 abnormal heart shape "malformation of the form or the patterning of the heart" [J:18048]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

Allelic Composition: Casz1tm1.1Flc/Casz1tm1.1Flc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL

 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]
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Allelic Composition: Irx3tm3Hui/Irx3tm3Hui,Irx5tm3Hui/Irx5tm3Hui,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

 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]
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Allelic Composition: Irx3tm3Hui/Irx3tm3Hui,Irx5tm3Hui/Irx5tm3Hui,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Rspo3tm1Arte/Rspo3tm1Arte,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Apptm1Ck/Apptm1Ck,Tg(PDGFB-PSEN1M146L)2Jhd/0
Genetic Background: involves: 129 * Black Swiss * C57BL/6 * DBA/2 * SW

 MP:0000367 abnormal coat/ hair morphology "anomalous color, structure, growth, or texture of the hair" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mitftm3.1Arnh/Mitftm3.1Arnh,Pax6Sey-Neu/Pax6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 MP:0000516 abnormal urinary system morphology "structural or developmental anomaly of any of the organs involved in the production or excretion of urine " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0000556 abnormal hindlimb morphology "malformation of the entire posterior extremities" [MGI:tc]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd

 MP:0000557 absent hindlimb "missing the entire posterior extremities" [MGI:tc, J:54637]
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Allelic Composition: Map2k7tm2.1Rjd/Map2k7tm2.1Rjd
Genetic Background: B6.129S6-Map2k7tm2.1Rjd

 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]
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Allelic Composition: Map2k7tm2.1Rjd/Map2k7tm2.1Rjd
Genetic Background: B6.129S6-Map2k7tm2.1Rjd

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj,Pou4f1tm1Et/Pou4f1tm1Et
Genetic Background: involves: 129 * C57BL/6

 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Vdrtm1.1Gcm/Vdrtm1.1Gcm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000939 reduced motor neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Aldh1a2tm1Soc/Aldh1a2tm2Soc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Gt(ROSA)26Sortm1(RARA*)Soc/Gt(ROSA)26Sortm1(RARA*)Soc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ

 MP:0000940 abnormal motor neuron innervation "misprojection or failure to bundle motor axons to an effector tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Aldh1a2tm1Soc/Aldh1a2tm2Soc,Tg(Dll1-cre)1Gos/0
Genetic Background: Not Specified

 MP:0000961 abnormal dorsal root ganglia morphology "malformed group of nerve cell bodies of each segmental nerve projecting from the spinal cord " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]
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Allelic Composition: Etv1tm2Tmj/Etv1tm2Tmj
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Isl1tm2Sev/Isl1tm2Sev,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0000965 abnormal sensory neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of sensory impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Etv1tm2Tmj/Etv1tm2Tmj
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Allelic Composition: Isl1tm1(cre/Esr1*)Krc/Isl1tm2Sev
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000968 abnormal sensory neuron innervation "defective or incomplete supply of nerve fibers to sensory termini or to spinal cord" [J:31622]
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Allelic Composition: Etv1tm2Tmj/Etv1tm2Tmj
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Isl1tm2Sev/Isl1tm2Sev,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

Allelic Composition: Brsk2tm2.1Jrs/Brsk2tm2.1Jrs,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0000982 abnormal Meissner s corpuscle morphology "structural anomaly of any of the numerous oval bodies found in the dermal papillae of thick skin; believed to be mechanorecptors for tactile sensation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mitftm3.1Arnh/Mitftm3.1Arnh,Pax6Sey-Neu/Pax6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 MP:0000988 abnormal pacinian corpuscle morphology "anomalous structure of any of the rapidly adapting mechanoreceptors found in subcutaneous tissue beneath both hairy and glabrous skin, and which normally contain an afferent nerve fiber surrounded by a capsule with multiple concentric layers" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mitftm3.1Arnh/Mitftm3.1Arnh,Pax6Sey-Neu/Pax6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 MP:0001086 absent petrosal ganglion " missing the group of sensory neuron cell bodies comprising the petrosal ganglion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Phox2btm3Jbr/Phox2btm3Jbr,Tg(Pou3f4-cre)32Cren/0
Genetic Background: involves: 129S2/SvPas * CD-1

 MP:0001092 abnormal trigeminal ganglion morphology "malformed group of sensory neuron cell bodies associated with the trigeminal nerve (fifth cranial nerve)" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33038]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj,Pou4f1tm1Et/Pou4f1tm1Et
Genetic Background: involves: 129 * C57BL/6

 MP:0001107 reduced Schwann cell number "fewer than normal cells that sheath the axons of the peripheral nervous system" [J:29971]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Xrcc1tm1Rpe/Xrcc1tm1Rpe
Genetic Background: involves: 129S2/SvPas * 129X1/SvJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Mitftm3.1Arnh/Mitftm3.1Arnh,Pax6Sey-Neu/Pax6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 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]
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Allelic Composition: Phox2btm4Jbr/Phox2b+,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0001330 abnormal optic nerve morphology "malformation, misprojection or atrophy in 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]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0001332 abnormal optic nerve innervation "misprojection or aberrant target finding 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]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Isl1tm2Gan/Isl1tm2Gan,Tg(Six3-cre)69Frty/?
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Fat1tm1.2Fhel/Fat1tm1.2Fhel,Tg(Myl1-lacZ)1Ibdml/0
Genetic Background: involves: 129S6/SvEvTac * BALB/cJ * C57BL/6J * SJL

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mitftm3.1Arnh/Mitftm3.1Arnh,Pax6Sey-Neu/Pax6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 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]
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Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Vdrtm1.1Gcm/Vdrtm1.1Gcm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Vdrtm1.1Gcm/Vdrtm1.1Gcm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj,Pou4f1tm1Et/Pou4f1tm1Et
Genetic Background: involves: 129 * C57BL/6

 MP:0001787 pericardial edema "accumulation of watery fluid in the pericardial sac of the heart" [J:52597]
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Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Rspo3tm1Arte/Rspo3tm1Arte,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * C57BL/6

 MP:0001850 otitis media "middle ear inflammation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60896]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 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]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0002081 perinatal lethality "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dkk1tm1Lmgd/Dkk1tm1Lmgd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kat6atm1Avo/Kat6a+
Genetic Background: involves: 129 * BALB/c * FVB/N

Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0002128 abnormal blood circulation "failure or atypical movement in the flow of blood from the heart to the vasculature and back to the heart" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Psmb8tm1Hjf/Psmb8tm1Hjf
Genetic Background: involves: 129P2/OlaHsd

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Shc1tm8Paw/Shc1tm9.1Paw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Isl1tm1(cre)Tmj/Isl1+,Shc1tm9Paw/Shc1tm9.1Paw
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Isl1tm3Sev/Isl1+
Genetic Background: involves: 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]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0002189 abnormal myocardial trabeculae morphology "malformation of the supporting bundles of muscular fibers lining the walls of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002272 abnormal nervous system electrophysiology "anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mitftm3.1Arnh/Mitftm3.1Arnh,Pax6Sey-Neu/Pax6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 MP:0002633 persistent truncus arteriosis "complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd

Allelic Composition: Fgf8tm2Moon/Fgf8tm1Mrc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

Allelic Composition: Smotm1Amc/Smotm2Amc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

Allelic Composition: Fgf8tm1Mrc/Fgf8tm2Moon,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6

Allelic Composition: Irx3tm3Hui/Irx3tm3Hui,Irx5tm3Hui/Irx5tm3Hui,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

Allelic Composition: Smotm2Amc/Smotm2Amc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0002652 thin myocardial wall "thinly developed cardiac muscle layers" [il:Ira Lu , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rspo3tm1Arte/Rspo3tm1Arte,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * C57BL/6

 MP:0002884 abnormal branchial arches "malformation or anomaly in the transient structures of the embryo that develop into regions of the head, neck and ears" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 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]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0003126 abnormal vulva morphology "anomaly in the structure of the external genitalia of the female" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0003221 abnormal cardiomyocyte apoptosis "change in the timing or the number of cardiac muscle cells undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd

 MP:0003445 sirenomelia "fusion of the posterior limbs often with partial or complete fusion of the autopods" [J:67375]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0003446 renal hypoplasia "decreased cell number in the kidney leading to reduced size" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0003567 abnormal cardiomyocyte proliferation "anomalous division or replication of cardiac muscle cells" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd

 MP:0003649 reduced right ventricle 
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Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Rspo3tm1Arte/Rspo3tm1Arte,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003651 abnormal axon outgrowth "defect/abnormality in the ability of an axon to extend from a neuron cell body" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:96121]
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Allelic Composition: Brsk2tm2.1Jrs/Brsk2tm2.1Jrs,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0003740 fusion of middle ear ossicles "union of the three small bones of the middle ear into a single structure " [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 MP:0003857 abnormal hindlimb zeugopod morphology 
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Allelic Composition: Map2k7tm2.1Rjd/Map2k7tm2.1Rjd
Genetic Background: B6.129S6-Map2k7tm2.1Rjd

 MP:0003872 absent right ventricle "missing the lower right chamber of the heart" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * C57BL/6

 MP:0003920 abnormal right ventricle morphology "structural anomaly of the right lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fgf8tm2Moon/Fgf8tm1Mrc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

Allelic Composition: Smotm2Amc/Smotm2Amc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Rspo3tm1Arte/Rspo3tm1Arte,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Casz1tm1.1Flc/Casz1tm1.1Flc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL

 MP:0004069 abnormal muscle spindle morphology "anomalous structure of the sensory organs in muscle that are involved in the stretch reflex" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Nrg1tm1Cbm/Nrg1tm3Cbm,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ

 MP:0004100 abnormal spinal cord interneuron morphology "malformation or absence of neurons that exclusively interact with other neurons in the spinal cord" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vdrtm1.1Gcm/Vdrtm1.1Gcm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0004267 abnormal optic tract morphology "any structural anomaly of the band of optic nerve fibers running from the optic chiasma to the lateral geniculate body and midbrain" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Isl1tm2Gan/Isl1tm2Gan,Tg(Six3-cre)69Frty/?
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

 MP:0004297 abnormal proprioceptive neuron morphology "any structural anomaly in the sensory neurons of the dorsal root ganglia that sense body position and send information about how much the muscle is stretched to the spinal cord" [MGI:hdene "Howard Dene, Mouse Genome Informatics Curator"]
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Allelic Composition: Nrg1tm1Cbm/Nrg1tm3Cbm,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ

Allelic Composition: Etv1tm1Wds/Etv1tm1.1Wds,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Brsk2tm2.1Jrs/Brsk2tm2.1Jrs,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0004507 abnormal ischium morphology "any structural anomaly of the lowest of the three major bones that constitute each half of the pelvis, distinct at birth but later becoming fused with the ilium and pubis" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Map2k7tm2.1Rjd/Map2k7tm2.1Rjd
Genetic Background: B6.129S6-Map2k7tm2.1Rjd

 MP:0004691 absent pubic bone "absence of the forward portion of either of the hipbones, at the juncture forming the front arch of the pelvis" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Map2k7tm2.1Rjd/Map2k7tm2.1Rjd
Genetic Background: B6.129S6-Map2k7tm2.1Rjd

 MP:0004759 decreased mitotic index "decreased number of cells in G2/M phase" [Bertram_Weiss:Bayer_Schering_Pharma_AG]
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Allelic Composition: Casz1tm1.1Flc/Casz1tm1.1Flc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL

 MP:0004787 abnormal dorsal aorta morphology "any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation" [ISBN:0-914294-08-3 "Gray s Anatomy"]
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Allelic Composition: Vdrtm1.1Gcm/Vdrtm1.1Gcm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004811 abnormal neuron physiology "anomalous function of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Phox2btm4Jbr/Phox2b+,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

 MP:0005215 abnormal islet of Langerhans morphology "anomalous morphology of these structures that are scattered throughout the pancreas and comprise its endocrine portion; within each islet there are three cell types: alpha, beta, and delta " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mitftm3.1Arnh/Mitftm3.1Arnh,Pax6Sey-Neu/Pax6+
Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Kat6atm1Avo/Kat6a+
Genetic Background: involves: 129 * BALB/c * FVB/N

Allelic Composition: Maftm1.1Cbm/Maftm2.1Cbm,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL

 MP:0006018 abnormal tympanic membrane morphology "any structural alterations in the thin, tense membrane forming the greater part of the lateral wall of the tympanic cavity and separating it from the external acoustic meatus; the tympanic membrane consitutes the boundary between the external and middle ear." [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator, J:46639:]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 MP:0006042 increased apoptosis "greater than normal programmed cell death" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Fgf8tm2Moon/Fgf8tm1Mrc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

Allelic Composition: Hand2tm1Dsr/Hand2tm2.1Dsr,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129 * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

 MP:0006055 abnormal vascular endothelial cell morphology "malformation in the cells that line the vasculature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Vdrtm1.1Gcm/Vdrtm1.1Gcm
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006073 abnormal retinal bipolar cell morphology "anomalous structure of the cells that transmit signals from the photoreceptors to retinal amacrine and ganglion cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92623:]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

Allelic Composition: Fgf8tm1Mrc/Fgf8tm2Moon,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6

Allelic Composition: Hand2tm1Dsr/Hand2tm2.1Dsr,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129 * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

Allelic Composition: Irx3tm3Hui/Irx3tm3Hui,Irx5tm3Hui/Irx5tm3Hui,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Rspo3tm1Arte/Rspo3tm1Arte,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * C57BL/6

 MP:0006219 optic nerve degeneration "retrogressive pathologic change of the optic nerve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0006221 optic nerve hypoplasia "less than the normal number of fibers in the optic nerve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Isl1tm2Gan/Isl1tm2Gan,Tg(Six3-cre)69Frty/?
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Allelic Composition: Isl1tm2Gan/Isl1tm2Gan,Pou4f2tm1(ALPP)Whk/Pou4f2tm2Whk,Tg(Six3-cre)69Frty/?
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Allelic Composition: Isl1tm1Gan/Isl1tm2Gan,Pou4f2tm1(ALPP)Whk/Pou4f2tm2Whk,Tg(Six3-cre)69Frty/?
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 MP:0006279 abnormal limb development "anomaly in the formation of the limbs" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0006309 decreased retinal ganglion cell number "reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 MP:0006346 small branchial arch "reduced size of one or more of the branchial arches" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm2Moon/Fgf8tm1Mrc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

 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"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

 MP:0006358 absent pinna reflex "complete failure to respond to an auditory stimulus by a characteristic ear twitch" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 MP:0006408 dorsal root ganglion hypoplasia "underdevelopment or reduced size, usually due to a reduced cell number, of a dorsal root ganglion or ganglia" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Isl1tm2Sev/Isl1tm2Sev,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0008056 abnormal retinal ganglion cell morphology "any structural anomaly of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0008067 retinal ganglion cell degeneration "degeneration or loss of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tsc2tm1Kido/Tsc2tm1Kido
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Isl1tm2Gan/Isl1tm2Gan,Tg(Six3-cre)69Frty/?
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Allelic Composition: Isl1tm2Gan/Isl1tm2Gan,Pou4f2tm1(ALPP)Whk/Pou4f2tm2Whk,Tg(Six3-cre)69Frty/?
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

Allelic Composition: Isl1tm1Gan/Isl1tm2Gan,Pou4f2tm1(ALPP)Whk/Pou4f2tm2Whk,Tg(Six3-cre)69Frty/?
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * DBA/2

 MP:0008106 decreased amacrine cell number "reduction in the number of one of the three types of interneurons found in the inner nuclear layer of the mature retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0008314 abnormal pterygopalatine ganglion morphology "any structural anomaly of the small parasympathetic ganglion that supplies nerve fibers to the lacrimal, nasal, palatine and pharyngeal glands" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Phox2btm3Jbr/Phox2btm3Jbr,Tg(Pou3f4-cre)32Cren/0
Genetic Background: involves: 129S2/SvPas * CD-1

 MP:0008486 decreased muscle spindle number "reduced number of the sensory organs in muscle that are involved in the stretch reflex" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition"]
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Allelic Composition: Etv1tm2Tmj/Etv1tm2Tmj
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0008513 thin retinal inner plexiform layer "reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0008532 decreased chemical nociceptive threshold "a lower than average concentration at which chemically induced pain sensation is first detectable" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Isl1tm2Sev/Isl1tm2Sev,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0008814 reduced nerve conduction velocity "decrease in the rate at which an eletrical impulse travels through a nerve" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Maftm1.1Cbm/Maftm2.1Cbm,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * SJL

 MP:0008825 abnormal cardiac epithelial to mesenchymal transition "anomaly in the process by which endocardial cells of the atrioventricular canal lose their epithelial characteristics, delaminante from the endocardial sheet, become migratory and invade the cardiac jelly, and develop mesenchymal characteristics eventaully forming the endocardial cushions reqired for septum and atrioventricular valve formation" [PMID:17303760]
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Allelic Composition: Fgf8tm1Mrc/Fgf8tm2Moon,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6

 MP:0009052 anal stenosis "abnormal narrowing or constriction of the anal orifice" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0009146 abnormal pancreatic acinar cell morphology "any structural anomaly of the secretory cells of the exocrine pancreas that produce fluid containing digestive enzymes" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0009178 absent pancreatic alpha cells "absence of the cells of the pancreas that secrete glucagon" [MESH:A03.734.414.065]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0009203 external male genitalia hypoplasia "underdevelopment or reduced size of the external masculine genital organs, usually due to a reduced number of cells" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0009252 absent urinary bladder "absence of the inflatable musculomembranous bag for holding urine" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Brsk2tm2.1Jrs/Brsk2tm2.1Jrs,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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"]
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Allelic Composition: Phox2btm4Jbr/Phox2b+,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

 MP:0010279 increased gastrointestinal tumor incidence "greater than the expected number of tumors originating in the gastrointestinal system in a given population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Stk11tm1.1Rdp/Stk11tm1.1Rdp,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ

 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

Allelic Composition: Irx3tm3Hui/Irx3tm3Hui,Irx5tm3Hui/Irx5tm3Hui,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

 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]
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Allelic Composition: Irx3tm3Hui/Irx3tm3Hui,Irx5tm3Hui/Irx5tm3Hui,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

Allelic Composition: Isl1tm1(cre)Sev/Isl1+,Tg(CAG-lacZ,-BMPR1A*,-EGFP)1Mis/0
Genetic Background: involves: 129S7/SvEvBrd

 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"]
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Allelic Composition: Hand2tm1Dsr/Hand2tm2.1Dsr,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129 * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Casz1tm1.1Flc/Casz1tm1.1Flc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * 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"]
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Allelic Composition: Fgf8tm2Moon/Fgf8tm1Mrc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

 MP:0010585 abnormal conotruncal ridge morphology "any structural anomaly of the pair of spiral mesenchymal swellings in the primordial ventricular outflow tract, that eventually fuse to form the conotruncal septum, dividing the subvalvular outflow tract and contributing to the membranous interventricular septum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:8823298]
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Allelic Composition: Fgf8tm1Mrc/Fgf8tm2Moon,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * Black Swiss * C57BL/6

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Phox2btm4Jbr/Phox2b+,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

 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]
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Allelic Composition: Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+,Isl1tm2Sev/Isl1tm2Sev,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0011088 partial neonatal 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 within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Brsk2tm2.1Jrs/Brsk2tm2.1Jrs,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Isl1tm1(cre/Esr1*)Krc/Isl1tm2Sev
Genetic Background: involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6

 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]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S4/SvJae * 129S7/SvEvBrd

Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: either: 129S1/Sv-Isl1tm1Tmj or (involves: 129S1/Sv * C57BL/6J)

Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj,Pou4f1tm1Et/Pou4f1tm1Et
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Hand2tm1Dsr/Hand2tm2.1Dsr,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129 * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6

Allelic Composition: Nkx2-5tm1Krc/Nkx2-5tm1Krc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Rspo3tm1Arte/Rspo3tm1Arte,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * C57BL/6

 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]
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Allelic Composition: Rspo3tm1Arte/Rspo3tm1Arte,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Casz1tm1.1Flc/Casz1tm1.1Flc,Isl1tm1(cre)Tmj/Isl1+
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6 * C57BL/6J * SJL

 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]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 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]
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Allelic Composition: Fgf8tm2Moon/Fgf8tm1Mrc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv

 MP:0011265 abnormal pancreas mesenchyme morphology "any structural anomaly of the embryonic connective tissue made up of loosely aggregated mesenchymal cells, supported by interlaminar jelly, that gives rise to the developing pancreas" [ISBN:0-683-40008-8, MGI:csmith]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0011851 abnormal embryonic cloaca development "failure or anomaly in the formation of a pouch-like dilation of the caudal end of the hindgut by the process of folding of the caudal region of the embryonic disk; during the tail-fold process, the posteriorly placed allantois, or allantoic diverticulum of the yolk sac, becomes an anterior extension of the cloaca; soon after the cloaca forms, it receives posterolaterally the caudal ends of the paired mesonephric ducts and hence becomes a junctional cistern for the allantois, the hindgut, and the ducts; a cloacal membrane, composed of ectoderm and endoderm, is the caudal limit of the primitive gut and temporarily separates the cloacal cavity from the extraembryonic confines of the amniotic cavity; subsequent growth of the urorectal septum eventually subdivides the once single cloaca chamber into the primitive urogenital sinus (ventrally) and the anorectal canal of the hindgut (dorsally)" [MGI:anna]
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Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 MP:0012179 abnormal splanchnic mesoderm morphology "any structural abnormality of the inner layer of lateral plate mesoderm, located above (dorsally) the endoderm, which forms the circulatory system and future gut wall" [MGI:anna]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0012703 decreased embryonic neuroepithelium thickness "reduced width of the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [MGI:anna]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: either: 129S1/Sv-Isl1tm1Tmj or (involves: 129S1/Sv * C57BL/6J)

 MP:0012752 abnormal cardiac neural crest cell migration "any anomaly in the migratory path of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs which originate from the lower hindbrain between the otic placode and third somite and migrate to the circumpharyngeal ridge (an arc-shape ridge located dorsal to the forming caudal pharyngeal arches) and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT); cardiac NCCs undergo migration away from the neural tube by following a dorsolateral path under the ectoderm, leading them to the pharyngeal arches; after pausing, they resume migration under the pharyngeal endoderm and, along the aortic arch arteries, populate the cardiac OFT where they contribute the aorticopulmonary septum, and ultimately colonize the heart to form the ventricular septum and cardiac ganglia" [MGI:anna]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129S/Sv * 129X1/SvJ

 MP:0013167 abnormal hindlimb bud morphology "any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species)" [MGI:anna]
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Allelic Composition: Map2k7tm2.1Rjd/Map2k7tm2.1Rjd
Genetic Background: B6.129S6-Map2k7tm2.1Rjd

Allelic Composition: Bmp4tm4Blh/Bmp4tm4Blh,Isl1tm1(cre)Sev/Isl1+
Genetic Background: involves: 129 * 129S6/SvEvTac

 MP:0013241 embryo tissue necrosis "morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage" [MGI:csmith]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: either: 129S1/Sv-Isl1tm1Tmj or (involves: 129S1/Sv * 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]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 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]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0014044 absent cardiac outflow tract "absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions" [MGI:anna]
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Allelic Composition: Isl1tm1Tmj/Isl1tm1Tmj
Genetic Background: involves: 129S1/Sv

 MP:0030005 increased retinal apoptosis "increase in the number of cells in the retina undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Cdx1tm3Lhn/Cdx1tm3Lhn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0030160 abnormal auditory bulla morphology "any structural anomaly of the hollow bony structure on the ventral, posterior portion of the skull that encloses parts of the middle and inner ear; in most species, it is formed by the tympanic part of the temporal bone" [https://en.wikipedia.org/wiki/Tympanic_part_of_the_temporal_bone]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 MP:0030410 middle ear effusion "fluid accumulation in the middle ear cavity due to dysfunction of the Eustachian tube" [https://www.medscape.org/viewarticle/730698, PMID:1267372]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

 MP:0030419 excessive cerumen "excess buildup of cerumen, a yellowish waxy substance (earwax), in the external auditory canal" [HP:0030789]
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Allelic Composition: Hoxd12m1Hsj/Hoxd12m1Hsj
Genetic Background: involves: BALB/cJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026934 Lhx3 / P50481 / LIM homeobox protein 3 / Q9UBR4* / LIM homeobox 3*  / complex
 ENSMUSG00000025223 Ldb1 / P70662 / LIM domain-binding protein 1 / Q86U70* / LIM domain binding 1*  / complex
 ENSMUSG00000026468 Lhx4 / P53776 / LIM/homeobox protein Lhx4 / Q969G2* / LIM homeobox 4*  / complex
 ENSMUSG00000042258 Isl1 / P61372 / Insulin enhancer protein ISL-1 / P61371* / ISL LIM homeobox 1*  / complex






 

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