This ENU mutation was identified in a screen for alteration in the neural crest expression pattern of the lacZ reporter allele Sox10 (Sox10tm1Weg). The ENU mutation is an A-to-G transition in exon 8 (A1136G) that results in replacement of aspartic acid with glycine at amino acid position 294 (D294G). (J:138775)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count