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)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1  Disease Model	Col6a1^tm1Gmb/Col6a1^tm1Gmb	involves: 129S1/Sv * 129X1/SvJ * C57BL/6
ht2	Col6a1^tm1Gmb/Col6a1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Phenotypes:

Affected Systems	hm1	ht2
show or hide all annotated terms
muscle	√	√
muscle phenotype	N
abnormal muscle morphology	√
abnormal skeletal muscle morphology	√
centrally nucleated skeletal muscle fibers		√
abnormal diaphragm morphology	√	√
abnormal intercostal muscle morphology	√	√
skeletal muscle necrosis	√	√
impaired skeletal muscle contractility	√
myopathy	√	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm1
Bethlem myopathy IDs Bethlem myopathy       DOID:0050663 MESH:C535436 OMIM:158810 Close	√

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)