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Col4a5tm1Yseg
Targeted Allele Detail
Nomenclature
Symbol: Col4a5tm1Yseg
Name: collagen, type IV, alpha 5; targeted mutation 1, Yoav Segal
MGI ID: MGI:3609047
Synonyms: COL4A5-
Gene: Col4a5  Location: ChrX:141475385-141689234 bp, + strand  Genetic Position: ChrX, 62.16 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:102306
Parent Cell Line:  ESVJ-1182 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
Mutation detailsA targeting construct was designed to insert a G213T transversion into exon 1. This mutation was predicted to convert codon 5 from a glycine to a stop codon. 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  9 strains or lines available
References
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:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory