Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit.

Abstract excerpt

In the course of a large-scale screening program of N-ethyl-N-nitrosourea mutagenesis, we isolated two semidominant mutation lines with white belly spotting, named as wps and wbs. Direct sequencing detected a nucleotide G-to-A transversion in exon 2 of the c-Kit gene in wps, which resulted in a missense D60N mutation. Another mutant, wbs, was mapped to chromosome 1 by genome-wide linkage analysis. In 93 meioses,...

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