Exon 15 was targeted with an sgRNA (targeting CCTGTTTTCGTGGTACAGTTAGG) using CRISPR/Cas9 technology, resulting in the insertion or duplication of a T in the coding sequence (c.2559insT) that causes a frameshift and premature stop codon. RT-qPCR showed reduced transcript expression from this allele in testes and immunohistochemistry experiments showed absence of protein expression. (J:307391)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count