|
|
| 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 (knock-in) |
|
Mutation: | |
Insertion |
| |
|
Mutation details: A 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
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| 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: |
5 reference(s)
|
|
Analysis Tools
