CRISPR/Cas9 technology generated a 14 bp deletion at the 3' end of the 2.7-kb long exon 7, causing a frameshift and premature stop codon upstream of the cyclin box in exons 9-13. Exon 7 was targeted by guide RNA C40-TGAACTTGGCATGATAGCAC. Immunoprecipitation and Western blot analysis yielded no signal for either full-length or the predicted truncation product in adult testes extracts indicating a null or severe loss-of-function allele. (J:273304)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count