This mutation was discovered in an ENU mutagenesis screen for alterations in the neurocristopathy phenotype of mice homozygous for a targeted mutation of Sox10. The molecular change is a point mutation in exon 8 substituting adenine for cytosine at nucleotide position 1148 (C1148A), resulting in replacement of tyrosine at codon 350 by a stop codon (Tyr350Ter). (J:136642)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count