This phenotypic mutant was identified in an ENU mutagenesis screen. The molecular lesion is a T-to-A transversion (c.682T>A) located in coding exon 7 of the gene (p.C228S), which encodes part of the USP catalytic domain. (J:227841)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count