Pcdh15^em1Zma
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pcdh15^em1Zma
• Name: protocadherin 15; endonuclease-mediated mutation 1, Zubair M Ahmed
• MGI ID: MGI:7564294
• Synonyms: Pcdh15^R250X
• Gene: Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
• Alliance: Pcdh15^em1Zma page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence, Null/knockout)
• Mutation: Single point mutation
• Mutation details: Arginine codon 250 (CGA) in exon 9 was changed to a stop codon (TGA) (p.R250*) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.R245* mutation associated with Usher syndrome type I (USH1). Immunohistochemistry experiments indicate absence of protein expression in retinal and cochlear tissues. (J:342718)

Expression

In Structures Affected by this Mutation:

3 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 Pcdh15 Mutation: 135 strains or lines available

References

• Original: J:342718 Sethna S, et al., Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. Elife. 2021 Nov 9;10:e67361
• All: 1 reference(s)