Pcdha9^em2Zhxu
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pcdha9^em2Zhxu
• Name: protocadherin alpha 9; endonuclease-mediated mutation 2, Zhiheng Xu
• MGI ID: MGI:8162200
• Synonyms: Pcdha9^M723Wfs
• Gene: Pcdha9 Location: Chr18:37130933-37320710 bp, + strand Genetic Position: Chr18, 19.46 cM
• Alliance: Pcdha9^em2Zhxu page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a 1 bp deletion, a deletion of 2166A (c.2166delA, p.Met723TrpfsTer119) which caused a frameshift and truncation of most of the transmembrane domain and entire intracellular domain. Quantitative real-time PCR analysis indicated a substantial decrease in mRNA levels. (J:360856)

Disease models

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 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)