Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Col6a3tm2.1Chu
Name:	collagen, type VI, alpha 3; targeted mutation 2.1, Mon-Li Chu
MGI ID:	MGI:5565209
Synonyms:	Col6a3d16
Gene:	Col6a3  Location: Chr1:90694582-90771710 bp, - strand  Genetic Position: Chr1, 45.53 cM
Alliance:	Col6a3tm2.1Chu page

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

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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	78 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

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:	168 strains or lines available

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)