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 single nucleotide deletion 198delG causing a frameshift resulting in a truncated protein. Aberrantly sized transcript by RT-PCR in brain was not observed. This is a null allele. (J:159625)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count