Positional cloning of the embryonic ectoderm development locus identified a transverstion of thymine at position 1031 to adenosine in the 1989SB ENU induced allele. The amino acid change of a polar Asn residue to a hydrophobic Ile at amino acid position 193 lies the second WD motif. (J:35419)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count