Col2a1^M2J
Chemically induced Allele Detail

Summary

• Symbol: Col2a1^M2J
• Name: collagen, type II, alpha 1; mutation 2 Jackson
• MGI ID: MGI:4999626
• Synonyms: cleft
• Gene: Col2a1 Location: Chr15:97873483-97902525 bp, - strand Genetic Position: Chr15, 53.97 cM
• Alliance: Col2a1^M2J page

A Col2a1^M2J/Col2a1⁺ mutant (left) and littermate control (right)

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU induced mutation is a G-to-A transition at chromosome 15:97,984,776 (GRCm38), which causes a premature stop codon at amino acid 645, and an A-to-T transversion at chromosome 15:97,825,743, in intron 12 that could potentially act as a cryptic splice acceptor site, though RT-PCR did not reveal splicing abnormalities. (J:176116, J:222308)
• Inheritance: Dominant

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:176116 Fairfield H, et al., Mutation discovery in mice by whole exome sequencing. Genome Biol. 2011 Sep 14;12(9):R86
• All: 4 reference(s)