Col1a2^oim
Spontaneous Allele Detail

Summary

• Symbol: Col1a2^oim
• Name: collagen, type I, alpha 2; osteogenesis imperfecta
• MGI ID: MGI:1856327
• Synonyms: oim
• Gene: Col1a2 Location: Chr6:4505618-4541543 bp, + strand Genetic Position: Chr6, 1.81 cM
• Alliance: Col1a2^oim page

Radiograph comparison of wild type and Col1a2^oim/Col1a2^oim mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: (C3H/HeJ x C57BL/6JLe)F2

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: A deletion of a single G residue at position 3978 (Col1a2:NM_007743.3:c.3978del) is predicted to result in a frameshift mutation and an alteration of the last 48 amino acids in the encoded protein. (J:4348, J:17202, J:41994)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Col1a2 Mutation: 120 strains or lines available

References

• Original: J:4348 Chipman SD, et al., Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1701-5
• All: 49 reference(s)