Col2a1^M3J
Spontaneous Allele Detail

Summary

• Symbol: Col2a1^M3J
• Name: collagen, type II, alpha 1; mutation 3 Jackson
• MGI ID: MGI:5551861
• Gene: Col2a1 Location: Chr15:97873483-97902525 bp, - strand Genetic Position: Chr15, 53.97 cM
• Alliance: Col2a1^M3J page

Short snout in Col2a1^M2J/Col2a1⁺ mouse (right)

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

Mutation origin

• Strain of Origin: C57BL/6J-Kit^W-v/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This spontaneous C-to-A mutation (G-to-T on negative gene strand) at chromosome 15 position 97,986,841 (GRCm38) is located within the CAG spice acceptor site adjacent to exon 26, changing it to CAT, which is predicted to interfere with normal splicing. (J:206718, J:222308, J:223062)
• Inheritance: Dominant

Disease models

Expression

In Structures Affected by this Mutation:

1 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:206718 Curtain MM, et al., A new, spontaneous short nose mutation in the mouse collagen type 2 alpha 1 gene. MGI Direct Data Submission. 2014
• All: 3 reference(s)