Col2a1^mc13
Chemically induced Allele Detail

Summary

• Symbol: Col2a1^mc13
• Name: collagen, type II, alpha 1; mc13
• MGI ID: MGI:5752936
• Gene: Col2a1 Location: Chr15:97873483-97902525 bp, - strand Genetic Position: Chr15, 53.97 cM
• Alliance: Col2a1^mc13 page

Abnormal head shape, shortened, thickened limbs and skeletal abnormalities in Col2a1^mc13/Col2a1^mc13 embryos

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: ENU mutagenesis induced a G-to-A point mutation in intron 21, five nucleotides from the end of exon 21. This mutation alters splicing and introduces a premature termination codon in exon 21, generating a predicted protein ~30% of the length of wild-type protein. (J:225386) Inheritance: Recessive

Generation of the Col2a1^mc13 allele

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Col2a1 Mutation: 68 strains or lines available

References

• Original: J:225386 Cionni M, et al., The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1. PLoS One. 2014;9(12):e116104
• All: 1 reference(s)