ENSMUSG00000001761


Mus musculus

Features
Gene ID: ENSMUSG00000001761
  
Biological name :Smo
  
Synonyms : P56726 / Smo / smoothened, frizzled class receptor
  
Possible biological names infered from orthology : Q99835
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: A3.3
Gene start: 29735503
Gene end: 29761365
  
Corresponding Affymetrix probe sets: 10536917 (MoGene1.0st)   1427048_at (Mouse Genome 430 2.0 Array)   1427049_s_at (Mouse Genome 430 2.0 Array)   1442215_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000001812
NCBI entrez gene - 319757     See in Manteia.
MGI - MGI:108075
RefSeq - XM_006505106
RefSeq - NM_176996
RefSeq Peptide - NP_795970
swissprot - P56726
swissprot - Q4VBD5
Ensembl - ENSMUSG00000001761
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smoENSDARG00000002952Danio rerio
 SMOENSGALG00000036114Gallus gallus
 SMOENSG00000128602Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Fzd6 / Q61089 / Frizzled-6 / O60353* / frizzled class receptor 6*ENSMUSG0000002229720
Fzd3 / Q61086 / Frizzled-3 / Q9NPG1* / frizzled class receptor 3*ENSMUSG0000000798919
Fzd8 / Q61091 / Frizzled-8 / Q9H461* / frizzled class receptor 8*ENSMUSG0000003690419
Fzd1 / O70421 / Frizzled-1 / Q9UP38* / frizzled class receptor 1*ENSMUSG0000004467419
Fzd7 / Q61090 / Frizzled-7 / O75084* / frizzled class receptor 7*ENSMUSG0000004107518
Fzd5 / Q9EQD0 / Frizzled-5 / Q13467* / frizzled class receptor 5*ENSMUSG0000004500518
Fzd2 / Q9JIP6 / Frizzled-2 / Q14332* / frizzled class receptor 2*ENSMUSG0000005028818
Fzd9 / Q9R216 / Frizzled-9 / O00144* / frizzled class receptor 9*ENSMUSG0000004955117
Fzd4 / Q61088 / Frizzled-4 / Q9ULV1* / frizzled class receptor 4*ENSMUSG0000004979116
Fzd10 / Q8BKG4 / Frizzled-10 / Q9ULW2* / frizzled class receptor 10*ENSMUSG0000008168316
Sfrp4 / Q9Z1N6 / secreted frizzled-related protein 4 / Q6FHJ7*ENSMUSG000000213199
Sfrp1 / Q8C4U3 / Secreted frizzled-related protein 1 / Q8N474*ENSMUSG000000315488
Sfrp5 / secreted frizzled-related sequence protein 5 / Q5T4F7* / secreted frizzled related protein 5*ENSMUSG000000188227
Frzb / P97401 / Secreted frizzled-related protein 3 / Q92765* / frizzled related protein*ENSMUSG000000270046
Sfrp2 / P97299 / secreted frizzled-related protein 2 / Q96HF1*ENSMUSG000000279966


Protein motifs (from Interpro)
Interpro ID Name
 IPR000539  Frizzled/Smoothened, transmembrane domain
 IPR015526  Frizzled/secreted frizzled-related protein
 IPR017981  GPCR, family 2-like
 IPR020067  Frizzled domain
 IPR026544  Smoothened
 IPR035683  Smoothened, transmembrane domain
 IPR036790  Frizzled cysteine-rich domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001503 ossification IMP
 biological_processGO:0001570 vasculogenesis IMP
 biological_processGO:0001649 osteoblast differentiation IMP
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0001708 cell fate specification IMP
 biological_processGO:0001755 neural crest cell migration IGI
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0002052 positive regulation of neuroblast proliferation IGI
 biological_processGO:0002053 positive regulation of mesenchymal cell proliferation IMP
 biological_processGO:0003007 heart morphogenesis IGI
 biological_processGO:0003140 determination of left/right asymmetry in lateral mesoderm IMP
 biological_processGO:0003323 type B pancreatic cell development IMP
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway IEA
 biological_processGO:0007224 smoothened signaling pathway ISO
 biological_processGO:0007228 positive regulation of hh target transcription factor activity IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007371 ventral midline determination IMP
 biological_processGO:0007389 pattern specification process IMP
 biological_processGO:0007417 central nervous system development IGI
 biological_processGO:0007494 midgut development IMP
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0009952 anterior/posterior pattern specification IMP
 biological_processGO:0009953 dorsal/ventral pattern formation IMP
 biological_processGO:0010468 regulation of gene expression IGI
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0021542 dentate gyrus development IMP
 biological_processGO:0021696 cerebellar cortex morphogenesis IMP
 biological_processGO:0021794 thalamus development IMP
 biological_processGO:0021904 dorsal/ventral neural tube patterning IMP
 biological_processGO:0021910 smoothened signaling pathway involved in ventral spinal cord patterning IMP
 biological_processGO:0021938 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation IMP
 biological_processGO:0021953 central nervous system neuron differentiation IMP
 biological_processGO:0021987 cerebral cortex development IMP
 biological_processGO:0030857 negative regulation of epithelial cell differentiation IMP
 biological_processGO:0031069 hair follicle morphogenesis IMP
 biological_processGO:0034504 protein localization to nucleus IMP
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0040018 positive regulation of multicellular organism growth IMP
 biological_processGO:0042307 positive regulation of protein import into nucleus IGI
 biological_processGO:0042475 odontogenesis of dentin-containing tooth IMP
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043392 negative regulation of DNA binding IMP
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IMP
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IMP
 biological_processGO:0046622 positive regulation of organ growth IMP
 biological_processGO:0048143 astrocyte activation IMP
 biological_processGO:0048468 cell development IMP
 biological_processGO:0048565 digestive tract development IMP
 biological_processGO:0048568 embryonic organ development IGI
 biological_processGO:0048589 developmental growth IMP
 biological_processGO:0048741 skeletal muscle fiber development IMP
 biological_processGO:0048853 forebrain morphogenesis IMP
 biological_processGO:0048873 homeostasis of number of cells within a tissue IDA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IMP
 biological_processGO:0050821 protein stabilization IDA
 biological_processGO:0051451 myoblast migration IGI
 biological_processGO:0051799 negative regulation of hair follicle development IMP
 biological_processGO:0060248 detection of cell density by contact stimulus involved in contact inhibition IEA
 biological_processGO:0060413 atrial septum morphogenesis IGI
 biological_processGO:0060644 mammary gland epithelial cell differentiation IMP
 biological_processGO:0060684 epithelial-mesenchymal cell signaling IMP
 biological_processGO:0061053 somite development IMP
 biological_processGO:0061113 pancreas morphogenesis IMP
 biological_processGO:0070986 left/right axis specification IMP
 biological_processGO:0071397 cellular response to cholesterol IEP
 biological_processGO:0072001 renal system development IEA
 biological_processGO:0072285 mesenchymal to epithelial transition involved in metanephric renal vesicle formation IMP
 biological_processGO:0090190 positive regulation of branching involved in ureteric bud morphogenesis IMP
 biological_processGO:2000036 regulation of stem cell population maintenance IMP
 biological_processGO:2000826 regulation of heart morphogenesis IMP
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005901 caveola IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IBA
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0060170 ciliary membrane TAS
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IBA
 molecular_functionGO:0005113 patched binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008144 drug binding IEA
 molecular_functionGO:0017147 Wnt-protein binding IBA


Pathways (from Reactome)
Pathway description
Hedgehog off state
BBSome-mediated cargo-targeting to cilium
Hedgehog on state
Activation of SMO


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000040 absent middle ear ossicles "missing small bones of the tympanic cavity" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0000099 absent vomer bone "missing triangular flat bone of the nasal septum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0000100 abnormal ethmoidal bone morphology "defect in the midline facial bone that encloses the nasal cavity" [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: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0000103 nasal bone hypoplasia "reduced cell number in the bone which forms the nasal bridge" [J:53370]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0000104 abnormal sphenoid bone morphology "malformed irregularly shaped bone of the base of the skull" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0000106 abnormal basisphenoid bone morphology "malformed base of the sphenoid bone" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 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:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Rab23opb2/Rab23opb2
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0000288 abnormal pericardium morphology "malformation of the fibroserous membrane covering the heart and beginning of the great vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cml, J:54408]
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Allelic Composition: Smotm1b(KOMP)Wtsi/Smotm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Smotm1b(KOMP)Wtsi/Bay

 MP:0000292 distended pericardial sacs "stretched outer parietal layer of the pericardium" [J:25248]
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Allelic Composition: T6Or/T6Or
Genetic Background: involves: 101 * C3H

 MP:0000428 abnormal craniofacial morphology "anomalous structure or development of the face and/or cranium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gpr161tm1Lex/Gpr161tm1Lex
Genetic Background: involves: 129S/SvEv * C57BL/6N

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dmdmdx/?,Fgf2tm1Zllr/Fgf2tm1Zllr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/10ScSn

 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0000462 abnormal digestive system morphology "anomalous structure of the system dedicated to the mechanical, chemical, and enzymatic processing of food" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smotm2Amc/Smotm2Amc,Nkx3-2tm1(cre)Wez/Nkx3-2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: En1tm2(cre)Gld/En1+,Gli2tm1Alj/Gli2tm6Alj
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

 MP:0000784 forebrain hypoplasia "reduced cell number in the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Fgf15-cre)1Hisa/0
Genetic Background: involves: 129X1/SvJ * Swiss Webster

 MP:0000830 abnormal diencephalon morphology "any malformation or absence of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Fgf15-cre)1Hisa/0
Genetic Background: involves: 129X1/SvJ * Swiss Webster

 MP:0000832 abnormal thalamus morphology "malformation or absence of the large ovoid mass of paired bodies containing mostly gray matter and forming part of the lateral wall of the third ventricle of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Olig3tm1(cre)Ynka/Olig3+,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Smotm2Amc/Smotm2Amc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129X1/SvJ * C57BL/6 * SJL

 MP:0000841 abnormal hindbrain morphology "malformed caudal region of the brain; includes cerebellum, pons and medulla oblongata" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: En1tm2(cre)Wrst/?,Gli3tm1Alj/Gli3tm1Alj,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: En1tm2(cre)Gld/En1+,Gli2tm1Alj/Gli2tm6Alj
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

Allelic Composition: En1tm2(cre)Wrst/?,Gli3tm1Alj/Gli3tm1Alj,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: En1tm2(cre)Gld/En1+,Gli2tm1Alj/Gli2tm6Alj
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

Allelic Composition: En1tm2(cre)Wrst/?,Gli3tm1Alj/Gli3tm1Alj,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 MP:0000857 abnormal cerebellar foliation "malformation of small offshoots of the cerebellar lobules" [Principles of Neural Science:ISBN 0-8385-8034-3, J:52951]
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Allelic Composition: En1tm2(cre)Gld/En1+,Gli2tm1Alj/Gli2tm6Alj
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

Allelic Composition: En1tm2(cre)Wrst/?,Gli3tm1Alj/Gli3tm1Alj,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 MP:0000873 thin external granule cell layer "reduced thickness of the transient layer of the cerebellar cortex which is composed of dividing and migrating granule cells" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
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Allelic Composition: En1tm2(cre)Wrst/?,Gli3tm1Alj/Gli3tm1Alj,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Kif7tm1.2Hui/Kif7tm1.2Hui,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * CD-1

Allelic Composition: Smobnb/Smobnb,Tmem107schlei/Tmem107schlei
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0000925 abnormal floor plate morphology "malformation or absence of a transient group of neuroepithelial cells located at the ventral midline of the neural tube that profoundly influences the development of the vertebrate central nervous system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smobnb/Smobnb,Tmem107schlei/Tmem107schlei
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Tex14tm1Zuk/Tex14tm1Zuk
Genetic Background: either: (involves: 129S7/SvEvBrd * C57BL/6J) or (involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6J)

 MP:0000933 abnormal rhombomere morphology "malformation of the transverse segments in the hindbrain region of the developing neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:1776]
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Allelic Composition: En1tm2(cre)Wrst/?,Gli3tm1Alj/Gli3tm1Alj,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 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: Ift172wim/Ift172wim,Smobnb/Smobnb
Genetic Background: involves: C57BL/6J

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0001046 abnormal enteric neuron morphology "malformed or absent neurons that innervate the esophagus, stomach, small and large bowel" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smotm2Amc/Smotm2Amc,Nkx3-2tm1(cre)Wez/Nkx3-2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0001293 anophthalmia "congenital absence of all tissues of the eyes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CML, J:71979]
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Allelic Composition: Kitltm3.1Pbes/Kitl+
Genetic Background: involves: 129S1/Sv * C57BL/6J * FVB/N

 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]
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Allelic Composition: Tyrc-7THO-II/Tyrc-7THO-II
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: Smotm1Amc/Smotm1Amc,Wdpcpcys40/Wdpcpcys40
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Smotm1b(KOMP)Wtsi/Smotm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Smotm1b(KOMP)Wtsi/Bay

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: T6Or/T6Or
Genetic Background: involves: 101 * C3H

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

Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Fgf15-cre)1Hisa/0
Genetic Background: involves: 129X1/SvJ * Swiss Webster

 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]
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Allelic Composition: T6Or/T6Or
Genetic Background: involves: 101 * C3H

Allelic Composition: Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129X1/SvJ * C57BL/6

Allelic Composition: Smotm1b(KOMP)Wtsi/Smotm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Smotm1b(KOMP)Wtsi/Bay

 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]
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Allelic Composition: Rab23opb2/Rab23opb2
Genetic Background: involves: C3H/HeJ * C57BL/6J

 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]
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Allelic Composition: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

Allelic Composition: Smorgsc02073/Smorgsc02073
Genetic Background: either: B6JJcl(C3JJcl)-Smorgsc02073 or B6JJcl(D2JJcl)-Smorgsc02073

 MP:0001719 absent vitelline blood vessels "missing vasculature of the yolk sac" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62571, J:12623]
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Allelic Composition: Ihhtm1Amc/Ihhtm1Amc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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: Rab23opb2/Rab23opb2
Genetic Background: involves: C3H/HeJ * C57BL/6J

Allelic Composition: Smotm1Amc/Smotm1Amc,Tulp3hhkr/Tulp3hhkr
Genetic Background: involves: 129X1/SvJ * C3H/HeH * C57BL/6

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Smobnb/Smobnb
Genetic Background: involves: C3H/HeJ * C57BL/6J

 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

 MP:0002084 abnormal developmental patterning "abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: T6Or/T6Or
Genetic Background: involves: 101 * C3H

 MP:0002100 abnormal tooth morphology "atypical size, shape or hard tissue structure of the teeth " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0002110 abnormal digit morphology "abnormal development of the digits resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Shhtm1Chg/Shhtm1Chg,Tulp3hhkr/Tulp3hhkr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3H/HeH * C57BL/6

Allelic Composition: Kif7tm1.2Hui/Kif7tm1.2Hui,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * CD-1

Allelic Composition: Ift122sopb/Ift122sopb,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129X1/SvJ * C3Heb/FeJ * C57BL/6J

Allelic Composition: Gpr161tm1Lex/Gpr161tm1Lex,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6N

 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: Shhtm2Amc/Shhtm2Amc,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
Genetic Background: involves: 129X1/SvJ * CD-1

 MP:0002191 abnormal artery morphology "malformation of the blood vessels that carry blood away from 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: Shhtm1Chg/Shhtm2Chg,Tg(Mef2c-cre)2Blk/0
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

Allelic Composition: Smotm2Amc/Smotm2.1Amc,Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ

 MP:0002260 abnormal thyroid cartilage morphology "any structural anomaly of the largest of the laryngeal cartilages " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology , 2nd edition:ISBN 0-397-51047-0]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

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

Allelic Composition: Smotm2Amc/Smotm2.1Amc,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

Allelic Composition: Smotm2Amc/Smotm2.1Amc,Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ

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

 MP:0002650 abnormal ameloblast morphology "malformation of the epithelial cells of the inner layer of the enamel organ of the developing tooth" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * 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]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002764 short tibia " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002765 short fibula "reduced length of the lateral and smaller of bone of the lower leg" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:12736]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002809 enlarged spinal cord size "larger appearance of the spinal cord" [J:83935]
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Allelic Composition: Smotm1Amc/Smotm1Amc,Tulp3hhkr/Tulp3hhkr
Genetic Background: involves: 129X1/SvJ * C3H/HeH * C57BL/6

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
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Allelic Composition: Gt(ROSA)26Sortm1(Smo/EYFP)Amc/Gt(ROSA)26Sor+,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

 MP:0002950 abnormal neural crest cell migration "defect in the dispersion of the transient and migratory group of cells that emerge from the dorsal region of the neural tube and migrate to many peripheral locations to form various tissues of the adult" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Smotm2Amc/Smotm2.1Amc,Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ

 MP:0003138 absent tympanic ring "missing the bony ring at the ear canal to which the tympanic membrane is attached" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:46972]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129X1/SvJ * C57BL/6

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nox4tm1.1Ams/Nox4tm1.1Ams
Genetic Background: B6.129-Nox4tm1.1Ams

 MP:0003425 abnormal optic vesicle formation "anomalous formation of the hollow outgrowth from the lateral aspects of the embryonic forebrain from which the retina and optic nerve develop" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94391]
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Allelic Composition: T6Or/T6Or
Genetic Background: involves: 101 * C3H

Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Fgf15-cre)1Hisa/0
Genetic Background: involves: 129X1/SvJ * Swiss Webster

 MP:0003449 abnormal intestinal goblet cells "malformation of the unicellular mucin-secreting glands" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95282]
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Allelic Composition: Smotm2Amc/Smotm2Amc,Nkx3-2tm1(cre)Wez/Nkx3-2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0003898 abnormal QRS complex "anomaly in the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarise prior to their contraction" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Smoc1tm1b(EUCOMM)Wtsi/Smoc1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Smoc1tm1b(EUCOMM)Wtsi/H

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

 MP:0003928 increased heart rate variability "increased variation of beat-to-beat intervals of the heart, usually indicitive of a healthy heart" [RGD:Rat Genome Database submission]
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Allelic Composition: Smoc1tm1b(EUCOMM)Wtsi/Smoc1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Smoc1tm1b(EUCOMM)Wtsi/H

 MP:0003935 abnormal craniofacial development "anomaly in the process of forming the face and/or cranium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Kif7tm1.2Hui/Kif7tm1.2Hui,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * CD-1

Allelic Composition: Smorgsc02073/Smorgsc02073
Genetic Background: either: B6JJcl(C3JJcl)-Smorgsc02073 or B6JJcl(D2JJcl)-Smorgsc02073

 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

Allelic Composition: Smotm2Amc/Smotm2.1Amc,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

 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:0004190 abnormal direction of embryo turning "axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage (Mus E8.5-E9.5); clockwise rotation is frequently associated with heart and visceral defects" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development"]
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Allelic Composition: Smobnb/Smobnb
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0004204 absent stapes "absence of the smallest and innermost of the three auditory ossicles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ift172wim/Ift172wim,Smobnb/Smobnb
Genetic Background: involves: C57BL/6J

 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"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Fgf15-cre)1Hisa/0
Genetic Background: involves: 129X1/SvJ * Swiss Webster

 MP:0004269 abnormal optic cup morphology "any structural anomaly of double walled stuctured formed by expansion and invagination of the distal end of the optic vesicle that develops into the pigmented and sensory layers of the retina while the mouth of the optic cup eventually forms the pupil of the eye" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Fgf15-cre)1Hisa/0
Genetic Background: involves: 129X1/SvJ * Swiss Webster

 MP:0004318 absent incus "absence of the middle of the three auditory ossicles" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004319 absent malleus "absence of the largest of the three auditory ossicles, which resembles a club or hammer" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004340 short scapula "reduced length of either or both of the large, flat bones of the back part of the shoulder" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004351 short humerus "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004359 short ulna "reduced length of the medial and larger of the two bones of the forearm" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004449 absent presphenoid bone "absence of the anterior part of the body of the sphenoid bone in front of the basisphenoid; it is usually a separate bone in the young or fetus, but becomes a part of the sphenoid in the adult" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004454 absent pterygoid process "absence of the process projecting downward from either side of the sphenoid bone, in vertebrates divided into two plates, an inner and an outer (sometimes called the lateral and medial); the posterior nares pass through the space, called the pterygoid fossa, between the processes" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004459 small alisphenoid bone "reduced size of either of the broad curved wing like expanses on each side of the sphenoid bone in adults; may exist independently in the young" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004468 small zygomatic bone "reduced size of the quadrilateral bone that forms the prominence of the cheek" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004476 absent palatine bone "absence of either of two irregularly shaped bones that form the back of the hard palate and helps to form the nasal cavity and the floor of the orbits" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004574 broad limb buds "increased anterior-posterior width of the mesenchymal outgrowth on the lateral trunk of the embryo that develops into the limbs" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Smobnb/Smobnb
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0004595 abnormal mandibular condyloid process morphology "any structural anomaly of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Col2a1-cre)15Amc/0
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Col2a1-cre)3Amc/0
Genetic Background: involves: 129X1/SvJ

 MP:0004791 absent lower incisors "missing the lower pair of long pointed teeth that are the most anterior and prominent in the jaw" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004837 abnormal neural fold formation "any anomaly in the process by which the edges of the neural plate thicken and move up to form a U-shaped structure called the neural groove" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: T6Or/T6Or
Genetic Background: involves: 101 * C3H

 MP:0004916 absent Reichert cartilage "absence of the cartilage normally found in the mesenchyme of the second branchial arch in the embryo, from which develop the stapes, the styloid processes, the stylohyoid ligaments, and the lesser cornua of the hyoid bone" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0004949 absent neuronal precursor cells "absence of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Kif7tm1.2Hui/Kif7tm1.2Hui,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * CD-1

Allelic Composition: Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129X1/SvJ * CD-1

 MP:0004979 abnormal neuronal precursor cell number "deviation from the normal count of the neuroblast embryonic cells that develop into nerve cells or neurons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdk20tm1.1Jegg/Cdk20tm1.1Jegg,Rab23opb2/Rab23opb2
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * FVB/N

 MP:0005157 holoprosencephaly "presence of a single forebrain hemisphere or lobe; often accompanied by a deficit in median facial development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83058]
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Allelic Composition: Smorgsc02073/Smorgsc02073
Genetic Background: either: B6JJcl(C3JJcl)-Smorgsc02073 or B6JJcl(D2JJcl)-Smorgsc02073

 MP:0005272 abnormal temporal bone morphology "anomalous structure of the large, irregular bone located at the base and side of the skull; consists of three parts at birth: squamous, tympanic, and petrous" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0005358 abnormal incisor morphology "structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005537 abnormal cerebral aqueduct "anomalous structure of the channel in the mesencephalon that connets the third and fourth ventricles" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: En1tm2(cre)Wrst/?,Gli3tm1Alj/Gli3tm1Alj,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Fgf15-cre)1Hisa/0
Genetic Background: involves: 129X1/SvJ * Swiss Webster

 MP:0005657 abnormal neural plate morphology "malformation or absence of the neuroectodermal area of the embryo s dorsal surface that develops into the neural tube and neural crest" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator, J:68142]
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Allelic Composition: T6Or/T6Or
Genetic Background: involves: 101 * C3H

 MP:0006030 abnormal otic vesicle formation "anomalous formation of the simple epithelial sac formed from the otic placode that gives rise to the structures of the inner ear" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:57313:]
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Allelic Composition: Smotm1Amc/Smotm2Amc,Tg(Fgf15-cre)1Hisa/0
Genetic Background: involves: 129X1/SvJ * Swiss Webster

 MP:0006104 abnormal tectum morphology "any structural alterations or malfunction of the rostral part of the midbrain roof" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, smb:Susan M Bello, Mouse Genome Informatics Curator, J:65762]
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Allelic Composition: En1tm2(cre)Wrst/?,Gli3tm1Alj/Gli3tm1Alj,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 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: Smotm2Amc/Smotm2.1Amc,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

Allelic Composition: Smotm2Amc/Smotm2.1Amc,Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ

 MP:0006337 abnormal first branchial arch morphology "anomaly in the structure of the first arch which contributes to development of mastication muscles, maxilla, mandible, incus, malleus, Meckel s cartilage, trigeminal nerve, and maxillary artery" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: T6Or/T6Or
Genetic Background: involves: 101 * C3H

 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:0008381 absent gonial bone "absence of the investing bone that normally lies on the surface of the malleus" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0008386 absent styloid process "absence of the slender needle-like pointed projection that runs downward and slightly forward from the base of the inferior surface of the petrous portion of the temporal bone to join the tympanic portion" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0008802 abnormal intestinal smooth muscle morphology "any structural anomaly of the nonstriated, involuntary muscle tissue lining the intestine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm2Amc/Smotm2Amc,Nkx3-2tm1(cre)Wez/Nkx3-2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0008883 abnormal enterocyte proliferation "anomaly in the ability of the enterocyte cell population to undergo expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm2Amc/Smotm2Amc,Nkx3-2tm1(cre)Wez/Nkx3-2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0009048 enlarged tectum "increased size of the rostral part of the midbrain roof" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: En1tm2(cre)Wrst/?,Gli3tm1Alj/Gli3tm1Alj,Smotm2Amc/Smotm2Amc
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6

 MP:0009844 abnormal neural crest cell apoptosis "change in the timing or the number of neural crest cells undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm2Amc/Smotm2.1Amc,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

Allelic Composition: Smotm2Amc/Smotm2.1Amc,Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ

 MP:0009905 absent tongue "absence of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 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: Kif7tm1.2Hui/Kif7tm1.2Hui,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129S6/SvEvTac * 129X1/SvJ * CD-1

 MP:0010155 abnormal intestine physiology "any functional anomaly of the digestive tube passing from the stomach to the anus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm2Amc/Smotm2Amc,Nkx3-2tm1(cre)Wez/Nkx3-2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0010158 abnormal intestine development "abnormal formation of the digestive tube passing from the stomach to the anus" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm2Amc/Smotm2Amc,Nkx3-2tm1(cre)Wez/Nkx3-2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 MP:0010335 fused first branchial arch "the first arch fails to fully divide along the midline" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: T6Or/T6Or
Genetic Background: involves: 101 * C3H

 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

 MP:0010460 pulmonary artery hypoplasia "underdevelopment or reduced size of the artery that arises from the right ventricle and conveys unaerated blood to the lungs, usually due to reduced cell number" [MESH:A07.231.114.715]
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Allelic Composition: Smotm2Amc/Smotm2.1Amc,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

 MP:0010747 abnormal enamel organ morphology "any structural anomaly of the circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010802 abnormal intestinal enteroendocrine cell morphology "any structural anomaly of the various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Smotm2Amc/Smotm2Amc,Nkx3-2tm1(cre)Wez/Nkx3-2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 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: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
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Allelic Composition: En1tm2(cre)Gld/En1+,Gli2tm1Alj/Gli2tm6Alj
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * Swiss Webster

 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: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

Allelic Composition: Smotm2Amc/Smotm2Amc,Nkx3-2tm1(cre)Wez/Nkx3-2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ

 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: Smorgsc02073/Smorgsc02073
Genetic Background: either: B6JJcl(C3JJcl)-Smorgsc02073 or B6JJcl(D2JJcl)-Smorgsc02073

 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: Lhx1tm2.1Bhr/Lhx1tm1Tmj,Tg(Rarb-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

Allelic Composition: Ift172wim/Ift172wim,Smobnb/Smobnb
Genetic Background: involves: C57BL/6J

Allelic Composition: Kif7maki/Kif7maki,Smobnb/Smobnb,Tg(Hlxb9-GFP)1Tmj/?
Genetic Background: involves: C57BL/6J * FVB/N

 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: Smotm1b(KOMP)Wtsi/Smotm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Smotm1b(KOMP)Wtsi/Bay

 MP:0011210 abnormal temporomandibular joint morphology "any structural anomaly of the synovial articulation between the head of the mandibular condoyloid process and the mandibular fossa and articular tubercle of the temporal bones" [ISBN:0-683-40008-8]
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Allelic Composition: Lasp1Tg(Col1a1-lacZ)1Ngma/Lasp1Tg(Col1a1-lacZ)1Ngma,Pax1un-ex/Pax1un-ex
Genetic Background: involves: C57BL/6

 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: Smoc1tm1b(EUCOMM)Wtsi/Smoc1tm1b(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Smoc1tm1b(EUCOMM)Wtsi/H

 MP:0012139 increased forebrain size "greater than average size of the anterior of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions)" [GO:0048853]
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Allelic Composition: Tctn1Gt(KST296)Byg/Tctn1Gt(KST296)Byg,Smotm1Amc/Smotm1Amc
Genetic Background: involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6

 MP:0012749 decreased cardiac neural crest cell number "reduction in the number of cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs migrate to the circumpharyngeal ridge and then into the 3rd, 4th and 6th pharyngeal arches and the cardiac outflow tract (OFT), and contribute to the remodeling of arch arteries, septation of the cardiac OFT, closure of the ventricular septum, and innervation of the cardiac ganglia" [MGI:anna]
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Allelic Composition: Smotm2Amc/Smotm2.1Amc,H2afvTg(Wnt1-cre)11Rth/0,Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J

 MP:0012751 impaired cardiac neural crest cell differentiation "abnormal or arrest of differentiation or patterning of the cardiac neural crest cells (NCCs), a subpopulation of cranial NCCs originating from the lower hindbrain between the otic placode and third somite; cardiac NCCs have the potential to differentiate into smooth muscle cells of the cardiac outflow tract and its septum, walls of aortic and arch-derived arteries, all of the parasympathetic innervation of the heart, and the connective tissue of the glands in the head and neck region, including the thymus, thyroid and parathyroid glands" [MGI:anna]
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Allelic Composition: Smotm2Amc/Smotm2.1Amc,H2afvTg(Wnt1-cre)11Rth/0,Gt(ROSA)26Sortm1Sor/Gt(ROSA)26Sor+
Genetic Background: involves: 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J

 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:0013293 embryonic lethality prior to tooth bud stage "death prior to the appearance of tooth buds (Mus: E12-E12.5)" [MGI:smb]
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Allelic Composition: Smotm1b(KOMP)Wtsi/Smotm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Smotm1b(KOMP)Wtsi/Bay

 MP:0013933 short Meckel s cartilage 
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0014101 decreased chondrocyte proliferation "decreased amount of multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population" [GO:0035988]
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Allelic Composition: Irf4tm1Mak/Irf4tm1Mak
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0030057 absent lacrimal bone "absence of the thin plate that forms part of the medial wall of the orbit behind the frontal process of the maxilla" [MGI:anna]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0030102 absent orbitosphenoid bone "missing the bone that is situated in the orbit on either side of the presphenoid; it generally forms a part of the sphenoid in the adult, and may be independent in the young" [MGI:anna]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0030121 small temporal bone squamous part "reduced size of the anterosuperior portion of the temporal bone that is thin, scale-like, and translucent and forms part of the lateral wall of the cranial vault" [MGI:anna]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0030198 nasal septum hypoplasia "underdevelopment or reduced size of the nasal septum, usually due to a reduced number of cells" [MGI:anna]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0030258 small mandibular condyloid process "reduced size of the round bump of bone and constricted neck portion that arises from the upper surface of the mandibular ramus (perpendicular portion) and articulates with the articular disk of the temporomandibular joint" [MGI:anna]
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Allelic Composition: Lasp1Tg(Col1a1-lacZ)1Ngma/Lasp1Tg(Col1a1-lacZ)1Ngma,Pax1un-ex/Pax1un-ex
Genetic Background: involves: C57BL/6

 MP:0030374 Meckel s cartilage hypoplasia "underdevelopment or decreased size, usually due to a reduced number of cells, 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]
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Allelic Composition: Smotm1Amc/Smotm2Amc,H2afvTg(Wnt1-cre)11Rth/?
Genetic Background: involves: C57BL/6J * CBA/J

 MP:0030457 abnormal molar cusp morphology "any structural anomaly of an elevation or mound on the crown of a molar tooth making up a part of the occlusal (masticatory) surface" [https://medical-dictionary.thefreedictionary.com/cusp+of+tooth, MGI:anna]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0030473 fused molars "union of two adjacent molar teeth in the maxilla and/or mandible" [MGI:anna]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0030514 absent Tomes process "failure to form the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel" [MGI:anna]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0030518 abnormal outer dental epithelium morphology "any structural anomaly of the layer of cuboidal cells located on the periphery of the enamel organ in a developing tooth; this layer is first seen during the bell stage" [https://en.wikipedia.org/wiki/Outer_enamel_epithelium]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0030519 abnormal inner dental epithelium morphology "any structural anomaly of the inner layer of columnar cells of the enamel organ, located on the rim nearest the dental papilla; this layer is first seen during the cap stage of tooth development, in which inner enamel epithelium cells are pre-ameloblast cells; these will differentiate into ameloblasts which are responsible for secretion of enamel during tooth development" [https://en.wikipedia.org/wiki/Inner_enamel_epithelium]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0030522 abnormal stellate reticulum morphology "any structural anomaly of the network of star-shaped cells found in the core of the dental (enamel) organ between the stratum intermedium and outer enamel epithelium which secrete hydrophilic glycosaminoglycans into the extracellular compartment; the stellate reticulum is most fully developed at the bell stage when intercellular spaces become fluid-filled, presumably related to osmotic effects arising from the high concentration of glycosaminoglycans; the main function of the stellate reticulum is mechanical, protecting the underlying dental tissues against physical disturbance and maintaining tooth shape" [http://dental.pitt.edu/periohistology-glossary, https://pocketdentistry.com/10-early-tooth-development-root-development-including-cementogenesis-and-tooth-eruption/]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0030527 absent enamel cord "missing the transient structure of the dental (enamel) organ that is normally present at the early cap stage of molar tooth development; the enamel cord is a strand of epithelial cells that runs from (links) the enamel knot to the outer dental epithelial cells, dividing the dental organ into two parts" [https://en.wikipedia.org/wiki/Enamel_cord, ISBN:978-0-12-597951-1, MGI:anna]
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Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000060216 Arrb2 / Q91YI4 / Beta-arrestin-2 / P32121* / arrestin beta 2*  / complex / reaction
 ENSMUSG00000024576 Q8BK63 / Csnk1a1 / casein kinase 1, alpha 1 / P48729*  / complex / reaction
 ENSMUSG00000029122 Evc / P57680 / Ellis-van Creveld syndrome protein homolog / P57679* / EvC ciliary complex subunit 1*  / complex / reaction
 ENSMUSG00000050248 Evc2 / Q8K1G2 / Limbin / Q86UK5* / EvC ciliary complex subunit 2*  / complex / reaction
 ENSMUSG00000001761 Smo / P56726 / smoothened, frizzled class receptor / Q99835*  / complex
 ENSMUSG00000018909 Arrb1 / Q8BWG8 / Beta-arrestin-1 / P49407* / arrestin beta 1*  / complex / reaction
 ENSMUSG00000024858 Grk2 / Q99MK8 / G protein-coupled receptor kinase 2 / P25098*  / reaction / complex
 ENSMUSG00000018395 Kif3a / P28741 / Kinesin-like protein KIF3A / Q9Y496* / kinesin family member 3A*  / reaction / complex






 

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