About   Help   FAQ
Targeted Allele Detail
Symbol: Col6a1tm1Gmb
Name: collagen, type VI, alpha 1; targeted mutation 1, Giorgio M Bressan
MGI ID: MGI:2153356
Gene: Col6a1  Location: Chr10:76708792-76726044 bp, - strand  Genetic Position: Chr10, 39.71 cM, cytoband B5-C1
Germline Transmission:  Earliest citation of germline transmission: J:51410
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsA neomycin resistance cassette was inserted into exon 2. Northern blot analysis demonstrated that the transcript was not detectable in primary embryonic fibroblasts derived from homozygous mice. Gel filtration chromatography experiments demonstrated that collagen VI was absent in homozygous mice. (J:51410)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 10 assay results
In Structures Affected by this Mutation: 6 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 Col6a1 Mutation:  42 strains or lines available

Note: Homozygous mutant mice may serve as an animal model of Bethlem myopathy. The functional deficit of the locomotor system is very limited in the mouse, where the myopathy is apparently asymptomatic. A major difference between the human and the mouse pathologies is the location of lesions: extensor muscles of limbs in Bethlem myopathy and diaphragm and auxiliary respiratory muscles in mice.

Original:  J:51410 Bonaldo P, et al., Collagen VI deficiency induces early onset myopathy in the mouse: an animal model for Bethlem myopathy. Hum Mol Genet. 1998 Dec;7(13):2135-40
All:  31 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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.16
The Jackson Laboratory