A T-to-C mutation results in a serine to proline substitution at position 83 (p.S83P) within the alpha1 helix in the homeodomain of the encoded peptide. (J:36967)
Basic Information
Goodale large mice x pink-eyed stock
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count