Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Col2a1sedc
Name:	collagen, type II, alpha 1; spondyloepiphyseal dysplasia congenita
MGI ID:	MGI:2676325
Synonyms:	Col2a1sed
Gene:	Col2a1  Location: Chr15:97873483-97902525 bp, - strand  Genetic Position: Chr15, 53.97 cM
Alliance:	Col2a1sedc page

Strain of Origin:

Mixed stock

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: Sequence analysis identified a point mutation in exon 49 that changed codon 1124 from CGC to TGC, resulting in substitution of arginine with cysteine (p.Arg1124Cys). (J:85735) Inheritance:    Recessive

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	68 strains or lines available

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:	4 reference(s)