Genomic PCR and DNA sequencing analysis showed the mutation is a deletion that spans the region from 11.1-kb upstream of the initiator methionine to intron 2. Northern and RT-PCR analysis demonstrated that no wild-type transcript could be detected in the mutant animals. Western blot analysis of homozygous mutant melanocytes showed that it also is not expressed at the protein level. (J:94728)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count