Col2a1^sedc
Spontaneous Allele Detail

Summary

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

Mutation origin

• Strain of Origin: Mixed stock

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 69 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: 4 reference(s)