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Col4a4m1H
Chemically induced Allele Detail
Nomenclature
Symbol: Col4a4m1H
Name: collagen, type IV, alpha 4; mutation 1, Harwell
MGI ID: MGI:6501795
Synonyms: Col4a4C400X
Gene: Col4a4  Location: Chr1:82426144-82564570 bp, - strand  Genetic Position: Chr1, 42.2 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsThe ENU-induced mutation was isolated in a screen looking for mice exhibiting end stage renal disease and was identified as a G to T change at position 1198 resulting in a glycine change to a stop codon at amino acid 400 (p.G400*). Immunofluorescence of kidneys confirmed absence of protein in glomeruli of homozygous mice. (J:285510)
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: 5 anatomical structures
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 Col4a4 Mutation:  68 strains or lines available
References
Original:  J:285510 Falcone S, et al., Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background. Sci Rep. 2019 Dec 31;9(1):20398
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