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Col4a5em1Keha
Endonuclease-mediated Allele Detail
Nomenclature
Symbol: Col4a5em1Keha
Name: collagen, type IV, alpha 5; endonuclease-mediated mutation 1, Kentarou Hashikami
MGI ID: MGI:6479074
Synonyms: R471X
Gene: Col4a5  Location: ChrX:140258381-140472230 bp, + strand  Genetic Position: ChrX, 62.16 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Endonuclease-mediated (Humanized sequence)
Mutation:    Single point mutation
 
Mutation detailsCRISPR/Cas9 technology generated a C to T change at position 1411 (c.1411C>T) resulting in a stop codon at arginine 471 (p.R471*) in exon 21. This is a mutation described in a patient with Alport Syndrome. qPCR indicates decreased mRNA levels in the renal cortex. (J:283613)
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: 9 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 Col4a5 Mutation:  14 strains or lines available
References
Original:  J:283613 Hashikami K, et al., Establishment of X-linked Alport syndrome model mice with a Col4a5 R471X mutation. Biochem Biophys Rep. 2019 Mar;17:81-86
All:  3 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
01/04/2022
MGI 6.17
The Jackson Laboratory