Prpf8^em2Ccpcz
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prpf8^em2Ccpcz
• Name: pre-mRNA processing factor 8; endonuclease-mediated mutation 2, Institute of Molecular Genetics
• MGI ID: MGI:7492413
• Synonyms: Prpf8^delta17
• Gene: Prpf8 Location: Chr11:75377642-75400275 bp, + strand Genetic Position: Chr11, 45.92 cM
• Alliance: Prpf8^em2Ccpcz page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology generated a 17-bp deletion in exon 42 at chr11:75,509,27111:75,509,287, abolishing five C-terminal amino acids including the stop codon. This allele thus encodes a protein variant with altered residues aa2,331-2,335 that is extended by aberrant nine amino acids at the C-terminus (p.Glu2331ValfsX15). This allele resembles human retinitis pigmentosa variants where mutagenic frameshifts originate from the stop codon itself, or from mutations within or shortly upstream of the Tyr2334 residue. (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: 87 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)