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Col2a1sedc
Spontaneous Allele Detail
Nomenclature
Symbol: Col2a1sedc
Name: collagen, type II, alpha 1; spondyloepiphyseal dysplasia congenita
MGI ID: MGI:2676325
Synonyms: Col2a1sed
Gene: Col2a1  Location: Chr15:97975602-98004695 bp, - strand  Genetic Position: Chr15, 53.97 cM
Mutation
origin
Strain of Origin:  Mixed stock
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsSequence analysis identified a point mutation in exon 48 that changed codon 1417 from CGC to TGC, resulting in substitution of cysteine for arginine (Arg1417Cys). (J:85735)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Col2a1 Mutation:  20 strains or lines available
References
Original:  J:85735 Donahue LR, et al., A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis. J Bone Miner Res. 2003 Sep;18(9):1612-21
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/15/2019
MGI 6.14
The Jackson Laboratory