This mutation was induced by treatment with ethylnitrosourea as part of a genetic screen performed at the Novartis Institute for Functional Genomics. Sequence analysis shows that the mutation is a C-to-T change at nucleotide position 205 of the cDNA, which introduces a stop codon in exon 2A, changing glutamine at position 26 of the MITF protein to STOP. (J:154486)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count