ENU induced a C-to-T transversion at nucleotide 265 (at 108757107 bp in Chr5, GRCm38.p2) creating a premature stop codon in the coiled-coil domain of the gene. Western blot analysis confirmed the absence of protein expression in testes from homozygous mice. (J:219664)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count