Col4a5^tm1Yseg
Targeted Allele Detail

Summary

• Symbol: Col4a5^tm1Yseg
• 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: Col4a5^tm1Yseg page

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 (Humanized sequence, Modified isoform(s), Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

9 anatomical structure(s)

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

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: 13 reference(s)