ENSMUSG00000052957


Mus musculus

Features
Gene ID: ENSMUSG00000052957
  
Biological name :Gas1
  
Synonyms : Gas1 / Growth arrest-specific protein 1 / Q01721
  
Possible biological names infered from orthology : growth arrest specific 1 / P54826
  
Species: Mus musculus
  
Chr. number: 13
Strand: -1
Band: B2
Gene start: 60174405
Gene end: 60177365
  
Corresponding Affymetrix probe sets: 10409833 (MoGene1.0st)   1416855_at (Mouse Genome 430 2.0 Array)   1448494_at (Mouse Genome 430 2.0 Array)   1456322_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000153311
Ensembl peptide - ENSMUSP00000064555
NCBI entrez gene - 14451     See in Manteia.
MGI - MGI:95655
RefSeq - NM_008086
RefSeq Peptide - NP_032112
swissprot - A0A286YD87
swissprot - Q01721
Ensembl - ENSMUSG00000052957
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gas1aENSDARG00000077298Danio rerio
 gas1bENSDARG00000067984Danio rerio
 GAS1ENSGALG00000017658Gallus gallus
 GAS1ENSG00000180447Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR016017  GDNF/GAS1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002053 positive regulation of mesenchymal cell proliferation IMP
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007050 cell cycle arrest IEA
 biological_processGO:0007411 axon guidance IMP
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0008589 regulation of smoothened signaling pathway IMP
 biological_processGO:0009953 dorsal/ventral pattern formation IMP
 biological_processGO:0010955 negative regulation of protein processing IEA
 biological_processGO:0012501 programmed cell death IDA
 biological_processGO:0021587 cerebellum morphogenesis IMP
 biological_processGO:0021904 dorsal/ventral neural tube patterning IMP
 biological_processGO:0030308 negative regulation of cell growth IDA
 biological_processGO:0035924 cellular response to vascular endothelial growth factor stimulus IEA
 biological_processGO:0042473 outer ear morphogenesis IMP
 biological_processGO:0042474 middle ear morphogenesis IMP
 biological_processGO:0042476 odontogenesis IMP
 biological_processGO:0042733 embryonic digit morphogenesis IMP
 biological_processGO:0043010 camera-type eye development IMP
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0045165 cell fate commitment IMP
 biological_processGO:0045879 negative regulation of smoothened signaling pathway IDA
 biological_processGO:0045880 positive regulation of smoothened signaling pathway IMP
 biological_processGO:0045930 negative regulation of mitotic cell cycle IEA
 biological_processGO:0048589 developmental growth IMP
 biological_processGO:0048592 eye morphogenesis IMP
 biological_processGO:0048598 embryonic morphogenesis IMP
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis IMP
 biological_processGO:0048706 embryonic skeletal system development IMP
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IMP
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IMP
 biological_processGO:0060021 roof of mouth development IMP
 biological_processGO:0060628 regulation of ER to Golgi vesicle-mediated transport IEA
 biological_processGO:1902807 negative regulation of cell cycle G1/S phase transition NAS
 biological_processGO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0031225 anchored component of membrane IEA
 cellular_componentGO:0046658 anchored component of plasma membrane ISS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Ligand-receptor interactions
Activation of SMO


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000030 abnormal tympanic ring morphology "malformed bony ring at the ear canal to which the tympanic membrane is attached" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:23837]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: C57BL/6J

 MP:0000087 absent mandible "missing the lower bony framework of the mouth where the inferior teeth are held" [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: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

 MP:0000088 short mandible "reduced length of the lower bony framework of the mouth where the inferior teeth are held" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000097 short maxilla "reduced length of the upper jaw bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Gli3Xt-J/Gli3Xt-J
Genetic Background: involves: 129/Sv * C3H/HeJ * C57BL/6J

 MP:0000137 abnormal vertebrae morphology "malformed bony segment of the spinal column" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

 MP:0000141 abnormal vertebral body morphology "malformed main portion of the vertebra anterior to the vertebral canal" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: C57BL/6J

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0000270 abnormal heart tube morphology "malformed embryonic heart " [J:37888]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000291 enlarged pericardium "extended fibroserous membrane covering the heart and beginning of the great vessels" [J:29971]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 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: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Onecut1tm1Flem/Onecut1tm1Flem,Onecut3tm1Jqmn/Onecut3tm1Jqmn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

 MP:0000562 polydactyly "greater than 5 digits on one or more autopods" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: C57BL/6J

Allelic Composition: Cdontm2Rsk/Cdon+,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1+
Genetic Background: involves: 129 * C57BL/6J

 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: Onecut1tm1Flem/Onecut1tm1Flem,Onecut3tm1Jqmn/Onecut3tm1Jqmn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: C57BL/6J

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Cdontm2Rsk/Cdon+,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1+
Genetic Background: involves: 129 * C57BL/6J

 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0000854 abnormal cerebellum development "malformed or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 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: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0000872 abnormal external granule cell layer "malformation of the transient layer of the cerebellar cortex which is composed of the dividing and migrating granule cells" [tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0000875 abnormal cerebellar Purkinje cell layer "any malformation or absence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 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: Onecut1tm1Flem/Onecut1tm1Flem,Onecut3tm1Jqmn/Onecut3tm1Jqmn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: C57BL/6J

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0001306 small lens "reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0001312 abnormal cornea morphology "malformation or absence of the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0001322 abnormal iris morphology "structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0001679 thin apical ectodermal ridge "decrease in the thickness of the multilayered ectodermal region at the tip of a limb bud necessary for the proper development of the underlying mesenchyme" [MGI:tc]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001700 abnormal embryo turning "atypical axial rotation of the germ layers of the embryo during the primitive streak/early somite stage (Mus:E8.5-E9.5) such that the curvature of the entire trunk region is reversed and the neural ectoderm moves to the convex region and the midgut region becomes located in the concave region" [The Atlas of Mouse Development:ISBN 0-12-402035-6, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0002109 abnormal limb morphology "abnormal development of limbs resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

 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: Onecut1tm1Flem/Onecut1tm1Flem,Onecut3tm1Jqmn/Onecut3tm1Jqmn
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * Swiss

 MP:0002115 abnormal skeleton extremities morphology "abnormal development of limb, foot or tail bones resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0002184 abnormal innervation "the malformation, misprojection or malfunction of the connection of nerve fibers with a target" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002233 abnormal nose morphology "any structural anomaly of the organ that is specialized for smell and is part of the respiratory system " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0002543 brachyphalangia "abnormally short phalanges" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0002544 brachydactyly "abnormally short digits" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0002699 abnormal vitreous body "anomalies of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0003885 abnormal rostro-caudal body axis extension "anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004173 abnormal intervertebral disk morphology "malformation of the cartilagenous and gelatinous structure found between vertebrae" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004200 reduced fetal size "smaller proportions of a fetus compared to littermates (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004418 small parietal bone "reduced size of the curved bone forming part of the vault of the cranium" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: C57BL/6J

 MP:0004539 absent maxilla "missing the upper bony framework of the mouth where the superior teeth are held" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

 MP:0004620 cervical vertebral fusion "the union of one or more cervical vertebrae into a single structure" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

 MP:0004634 short metacarpal bones "reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0004635 short metatarsal bones "reduced length of the five bones of the hindpaws that articulate proximally with the cuneiform and cuboid bones of the tarsus and distally with the phalanges" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0004980 increased neuronal precursor cell number "increased number 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: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0004981 decreased neuronal precursor cell number "reduced number 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: Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: C57BL/6J

Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0005099 abnormal ciliary body morphology "structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 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: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

 MP:0005172 lack of eye pigmentation "visual organs are devoid of coloring pigment in relation to control animals, usually resulting in a red or pink color" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:83500]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0005193 abnormal anterior eye segment morphology "anomalous structure of any of the parts of the eye that lie in front of, or ventral to, the lens (inclusive) " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0005195 abnormal posterior eye segment morphology "anomalous structure of any of the parts of the eye that lie in back of, or dorsal to, the lens (but not inclusive) " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0005241 abnormal retinal ganglion layer morphology "anomalous structure of the innermost nuclear layer of the retina, which projects axons through the optic nerve to the brain " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0005262 coloboma "anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0005287 narrow eye opening "less than the normal distance from one eyelid to the other " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:71350]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0005306 abnormal phalanx morphology "aberrant structure of any of the long bones of the digits" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0005650 abnormal limb bud morphology "aberrant structure or development of any of the swellings on the trunk of the embryo that become limbs" [hdene:Howard Dene , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:61460]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0006069 abnormal retinal neuronal layer morphology "malformation in any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0006099 thin granule layer "reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:65410]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0006280 abnormal digit development "anomaly in the formation of the digits" [J:70592, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0009903 abnormal medial nasal prominence morphology "any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the formation of half of the upper jaw, and the nasal tip and philtrum of the upper lip develop from it" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: C57BL/6J

 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: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 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: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0011261 abnormal limb mesenchyme morphology "any structural anomaly in the primordial embryonic connective tissue of the developing limbs, autopods and digits, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to limb connective tissue, bone and musculature in conjunction with myotome cells" [ISBN:0-683-40008-8, MGI:csmith]
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Allelic Composition: Cnbpm1Hrb/Cnbp+
Genetic Background: B6.129S4-Cnbpm1Hrb

 MP:0012270 cardiac edema "abnormal accumulation of fluid in the interstitial tissues and cavities of the body due to impaired cardiac function or congestive heart failure; usually characterized by increased venous and capillary pressures and often associated with renal sodium retention" [MGI:anna]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shhtm1Chg
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0013790 single external naris "presence of only one anterior opening to the nasal cavity as opposed to the normal two; usually associated with midline facial defects arising from cleavage anomalies" [MGI:Anna]
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Allelic Composition: Gas1tm2Fan/Gas1tm2Fan,Shhtm1Chg/Shh+
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0030313 abnormal face development "any anomaly in the process in which the anatomical structures of the face are generated and organized" [GO:0060325]
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Allelic Composition: Cdontm2Rsk/Cdontm2Rsk,Gas1tm2Fan/Gas1tm2Fan
Genetic Background: involves: 129 * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002633 Shh / Q62226 / Sonic hedgehog protein Sonic hedgehog protein N-product / Q15465* / sonic hedgehog*  / complex / reaction
 ENSMUSG00000021466 Ptch1 / Q61115 / Mus musculus patched 1 (Ptch1), transcript variant 2, mRNA. / Q13635* / patched 1*  / reaction / complex






 

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