CRISPR-targeting against exons 3 through 11 duplicated an A nucleotide and generated a frameshift variant (c.1430dupA; p.Asn477LysfsTer15; NM_001031743.2). Western blot analysis confirmed the complete absence of protein expression in testicular tissue from homozygous mutant mice. (J:311499)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count