Cfap70^em2Chnsr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cfap70^em2Chnsr
• Name: cilia and flagella associated protein 70; endonuclease-mediated mutation 2, Su-Ren Chen
• MGI ID: MGI:7587720
• Synonyms: Cfap70-truncated
• Gene: Cfap70 Location: Chr14:20444261-20502294 bp, - strand Genetic Position: Chr14, 11.53 cM, cytoband B
• Alliance: Cfap70^em2Chnsr page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 technology using sgRNA 5-AGCATTCTTTGGCCTCAGCA-3 deleted 16 bp within exon 25, generating a stop codon after amino acid 1007. Western blot analysis confirmed a truncated protein lacking tetratricopeptide repeats (TPRs) 5-8 in testis lysates. Amino acid 1008 in mouse is homologous to the position of the 988th amino acid in the human. A nonsense variant c.2962C>T/p.R988X that produces a truncated protein lacking the TPRs was identified in a patient with oligo-astheno-teratozoospermia. (J:338031)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Cfap70 Mutation: 39 strains or lines available

References

• Original: J:338031 Jin HJ, et al., CFAP70 is a solid and valuable target for the genetic diagnosis of oligo-astheno-teratozoospermia in infertile men. EBioMedicine. 2023 Jul;93:104675
• All: 1 reference(s)