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Targeted Allele Detail
Symbol: Col4a5tm1Yseg
Name: collagen, type IV, alpha 5; targeted mutation 1, Yoav Segal
MGI ID: MGI:3609047
Synonyms: COL4A5-
Gene: Col4a5  Location: ChrX:140258381-140472230 bp, + strand  Genetic Position: ChrX, 62.16 cM
Alliance: Col4a5tm1Yseg page
Germline Transmission:  Earliest citation of germline transmission: J:102306
Parent Cell Line:  ESVJ-1182 (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Humanized sequence, Modified isoform(s), Null/knockout)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA targeting construct was designed to insert a G to T nucleotide transversion into exon 1. This mutation converts codon 5 from a glycine to a stop codon (G5X). Expression of the alpha5(IV) chain was lost in mutant kidneys from males. Basement membrane expression of the alpha 3(IV) chain was lost as well as that of the alpha6(IV) chain. Expression of alpha1(IV) and alpha2(IV) was conserved. Expression of the alpha5(IV) and alpha3(IV) chains in kidneys from females was mosaic, reflecting X-inactivation. (J:102306)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 10 anatomical structures
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 Col4a5 Mutation:  14 strains or lines available
Original:  J:102306 Rheault MN, et al., Mouse model of X-linked Alport syndrome. J Am Soc Nephrol. 2004 Jun;15(6):1466-74
All:  12 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
MGI 6.22
The Jackson Laboratory