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| Nomenclature |
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Symbol:
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Col6a1tm1Gmb
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Name:
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collagen, type VI, alpha 1;
targeted mutation 1, Giorgio M Bressan
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MGI ID: |
MGI:2153356 |
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Gene:
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Col6a1
Location:
Chr10:76708792-76726168 bp, - strand
Genetic Position: Chr10,
39.71 cM, cytoband B5-C1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:51410
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Col6a1 Mutation:
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4 strains or lines available |
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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.
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| References |
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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
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All: |
13 reference(s)
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Analysis Tools
