ENU-mutagenesis induced a C to T transition, introducing a premature termination codon and resulting in a truncated protein of 95 amino acids instead of 418. This nonsense mutation presumably leads to a loss-of-function allele as the truncated protein would not contain the six conserved transmembrane regions. This mutant was identified in a screen for ataxia. (J:242350)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count