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Col4a1Bru
Chemically induced Allele Detail
Summary
Symbol: Col4a1Bru
Name: collagen, type IV, alpha 1; bruised
MGI ID: MGI:1856689
Gene: Col4a1  Location: Chr8:11248423-11362826 bp, - strand  Genetic Position: Chr8, 5.53 cM
Alliance: Col4a1Bru page
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis resulted in an G>T point mutation in exon 26 resulting in the substitution of glycine with tryptophan at position 627 of the encoded peptide (p.G627W). This is predicted to cause severe detrimental effects on collagen triple helix formation and stability. (J:102749)
Inheritance:    Semidominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Col4a1 Mutation:  78 strains or lines available
Notes
The bruised mutation was found among offspring of a male treated with ethylnitrosourea (J:13980).
References
Original:  J:13980 Lyon MF, et al., Bruised (Bru). Mouse News Lett. 1984;71:26
All:  2 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)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory