The complete molecular nature of this allele has not yet been determined. Restriction site analysis and sequenceing identified the W mutation in which a G-to-A transition exists in the splice donor site of exon 10-intron 10 (changing it from G-GT to G-AT), resulting in the aberrant splicing of exon 9 to 11, skipping exon 10 which encodes the transmembrane domain. Protein produced from this allele could not be discerned from the product of the KitW allele by immunoprecipitation. (J:79128)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count