Col6a3^tm1Chu
Targeted Allele Detail

Summary

• Symbol: Col6a3^tm1Chu
• Name: collagen, type VI, alpha 3; targeted mutation 1, Mon-Li Chu
• MGI ID: MGI:5514357
• Synonyms: Col6a3^hm
• Gene: Col6a3 Location: Chr1:90694582-90771710 bp, - strand Genetic Position: Chr1, 45.53 cM
• Alliance: Col6a3^tm1Chu page

Variable fiber size with many small sized fibers and increase in interstitial connective tissue between muscles of Col6a3^tm1Chu/Col6a3^tm1Chu mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:198581
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

Allele Type: Targeted (Hypomorph) Mutation: Insertion Mutation details: A floxed neomycin resistance cassette replaced exon 15 to 16. RT-PCR confirmed low level expression of a truncated transcript that fused exon 14 to 17. This allele is hypomorphic. (J:198581)

Generation of the Col6a3^tm1Chu allele

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Col6a3 Mutation: 169 strains or lines available

References

• Original: J:198581 Pan TC, et al., COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy. J Biol Chem. 2013 May 17;288(20):14320-31
• All: 1 reference(s)