Col6a1^tm1Gmb
Targeted Allele Detail

Summary

• Symbol: Col6a1^tm1Gmb
• Name: collagen, type VI, alpha 1; targeted mutation 1, Giorgio M Bressan
• MGI ID: MGI:2153356
• Gene: Col6a1 Location: Chr10:76544626-76561869 bp, - strand Genetic Position: Chr10, 39.71 cM, cytoband B5-C1
• Alliance: Col6a1^tm1Gmb page

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A 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)

Disease models

Expression

In Mice Carrying this Mutation:	10 assay results
In Structures Affected by this Mutation:	5 anatomical structure(s)

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: 63 strains or lines available

Notes

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.

References

• 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: 44 reference(s)