This phenotypic mutant was identified in an ENU mutagenesis screen at The Oak Ridge National Laboratory. A G to C transversion was subsequently identified which causes an Alanine to Proline change at amino acid residue 2642. This mutation occurs in the globular region of the C terminal and is involved in ligand binding. (J:96673)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count