Pcdha9^em1Zhxu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pcdha9^em1Zhxu
• Name: protocadherin alpha 9; endonuclease-mediated mutation 1, Zhiheng Xu
• MGI ID: MGI:8162198
• Synonyms: Pcdha9^L729P
• Gene: Pcdha9 Location: Chr18:37130933-37320710 bp, + strand Genetic Position: Chr18, 19.46 cM
• Alliance: Pcdha9^em1Zhxu page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a T to C change at position 2185 (c.2185 T>C) resulting in a lysine to proline substitution at amino acid 729 (p.L729P). This corresponds to the p.L700P variant identified in a cohort of Chinese amyotrophic lateral sclerosis patients. (J:360856)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	4 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 Pcdha9 Mutation: 45 strains or lines available

References

• Original: J:360856 Zhong J, et al., PCDHA9 as a candidate gene for amyotrophic lateral sclerosis. Nat Commun. 2024 Mar 11;15(1):2189
• All: 1 reference(s)