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Col6a3tm2.1Chu
Targeted Allele Detail
Summary
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
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 detailsA 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 78 assay results
In Structures Affected by this Mutation: 3 anatomical structures
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:  106 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/24/2023
MGI 6.22
The Jackson Laboratory