Col6a3^tm2.1Chu
Targeted Allele Detail

Summary

• Symbol: Col6a3^tm2.1Chu
• Name: collagen, type VI, alpha 3; targeted mutation 2.1, Mon-Li Chu
• MGI ID: MGI:5565209
• Synonyms: Col6a3^d16
• Gene: Col6a3 Location: Chr1:90694582-90771710 bp, - strand Genetic Position: Chr1, 45.53 cM
• Alliance: Col6a3^tm2.1Chu page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:208903
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A targeting vector was designed to replace exon 16 of the gene with a loxP-flanked neomycin resistance (neo) cassette. Cre-mediated recombination removed the floxed neo cassette. RT-PCR analysis confirmed expression of a truncated transcript with in-frame deletion of six Gly-X-Y repeats; expression is comparable to mRNA from normal mice. The mutant collagen chain forms triple-helical collagen VI molecules with the alpha 1 and 2 chains and is secreted. (J:208903)
• Inheritance: Dominant

Disease models

Expression

In Mice Carrying this Mutation:	78 assay results
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 Col6a3 Mutation: 169 strains or lines available

References

• Original: J:208903 Pan TC, et al., A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16. J Biol Chem. 2014 Apr 11;289(15):10293-307
• All: 1 reference(s)