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Col4a4bwk
Spontaneous Allele Detail
Nomenclature
Symbol: Col4a4bwk
Name: collagen, type IV, alpha 4; bilateral wasted kidneys
MGI ID: MGI:4838011
Synonyms: bwk
Gene: Col4a4  Location: Chr1:82426144-82564570 bp, - strand  Genetic Position: Chr1, 42.2 cM
Mutation
origin
Strain of Origin:  NONcNZO4/Lt
Mutation
description
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Single point mutation
 
Mutation detailsThe mutation was identified as a G to A subsitition in the first base of intron 30. As a result exon 30 is skipped, however, the mRNA reading frame is maintained. Protein and immunohistochemical analysis indicates some alpha4 is produced and forms low levels of collagen IV (alpha3, alpha4, alpha5) trimers. (J:223185)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 6 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Col4a4 Mutation:  68 strains or lines available
References
Original:  J:223185 Korstanje R, et al., A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen alpha3alpha4alpha5(IV) trimers. Kidney Int. 2014 Jun;85(6):1461-8
All:  1 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
08/09/2022
MGI 6.21
The Jackson Laboratory