Exon 3 was deleted resulting in a premature stop codon in exon 4 and this was proven a null allele by the failure to detect the protein by immunohistochemistry and Western blot of testes. (J:307507)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count