This ENU mutation was identified in a screen for alteration in the neural crest expression pattern of the lacZ reporter allele Sox10 (Sox10tm1Weg). The mutation has been reported to be a C to T transition in the 5' splice site of Traf4 intron 2 that results in skipping of exon 2. mRNA can be detected. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count