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Col4a1ENU6019
Chemically induced Allele Detail
Summary
Symbol: Col4a1ENU6019
Name: collagen, type IV, alpha 1; ENU mutation 6019
MGI ID: MGI:4822161
Synonyms: Col4a1G1344D
Gene: Col4a1  Location: Chr8:11248423-11362826 bp, - strand  Genetic Position: Chr8, 5.53 cM
Alliance: Col4a1ENU6019 page
Mutation
origin
Strain of Origin:  C3H/HeJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsMale mice were exposed to three doses of 100mg/kg body weight of ENU. This resulted in a G to A nucleotide substitution at position 4162 (NCBI accession # NM_009931) and a glycine to Aspartic acid substitution at amino acid residue 1344. (J:163225)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Col4a1 Mutation:  78 strains or lines available
References
Original:  J:163225 Favor J, et al., Type IV procollagen missense mutations associated with defects of the eye, vascular stability, the brain, kidney function and embryonic or postnatal viability in the mouse, Mus musculus: an extension of the Col4a1 allelic series and the identification ofthe first two Col4a2 mutant alleles. Genetics. 2007 Feb;175(2):725-36
All:  5 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
11/05/2024
MGI 6.24
The Jackson Laboratory