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Col6a3tm1Chu
Targeted Allele Detail
Nomenclature
Symbol: Col6a3tm1Chu
Name: collagen, type VI, alpha 3; targeted mutation 1, Mon-Li Chu
MGI ID: MGI:5514357
Synonyms: Col6a3hm
Gene: Col6a3  Location: Chr1:90766860-90843971 bp, - strand  Genetic Position: Chr1, 45.53 cM
Variable fiber size with many small sized fibers and increase in interstitial connective tissue between muscles of Col6a3tm1Chu/Col6a3tm1Chu 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 detailsA 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 Col6a3tm1Chu allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 5 anatomical structures
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:  1 strain or line 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory