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Col6a1tm1Gmb
Targeted Allele Detail
Nomenclature
Symbol: Col6a1tm1Gmb
Name: collagen, type VI, alpha 1; targeted mutation 1, Giorgio M Bressan
MGI ID: MGI:2153356
Gene: Col6a1  Location: Chr10:76708792-76726168 bp, - strand  Genetic Position: Chr10, 39.71 cM, cytoband B5-C1
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
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  4 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:  19 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
12/09/2014
MGI 5.20
The Jackson Laboratory