Prpf8^em1Ccpcz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prpf8^em1Ccpcz
• Name: pre-mRNA processing factor 8; endonuclease-mediated mutation 1, Institute of Molecular Genetics
• MGI ID: MGI:7492409
• Synonyms: Prpf8^Y2334N
• Gene: Prpf8 Location: Chr11:75377642-75400275 bp, + strand Genetic Position: Chr11, 45.92 cM
• Alliance: Prpf8^em1Ccpcz page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 technology introduced a tyrosine to an asparagine at amino acid 2334 (p.Y2334N) in exon 42. This is a variant identified in non-syndromic retinitis pigmentosa. (J:336769)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(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 Prpf8 Mutation: 86 strains or lines available

References

• Original: J:336769 Krausova M, et al., Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells. Life Sci Alliance. 2023 Jun;6(6)
• All: 1 reference(s)