This mutation, discovered among G3 progeny of an ENU-mutagenized mouse by their hypopigmented, light brown fur, corresponds to an A-to-T transversion at nucleotide position 2337 of the gene, in the 16th of 23 exons, replacing an arginine codon by a termination codon at position 680 (R680Ter). (J:135220)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count