Col4a5^em1Keha
Endonuclease-mediated Allele Detail

Summary

• Symbol: Col4a5^em1Keha
• 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
• Alliance: Col4a5^em1Keha page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/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)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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: 13 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)