| Primary Identifier | MGI:7587720 | Allele Type | Endonuclease-mediated |
| Gene | Cfap70 | Strain of Origin | Not Specified |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | CRISPR/Cas9 technology using sgRNA 5â-AGCATTCTTTGGCCTCAGCA-3â 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. |
