This phenotypic mutant was identified in an ENU mutagenesis screen. Molecular sequence analysis revealed that an T-to-A transversion mutation had occurred that is predicted to change the amino acid leucine 1404 to histidine in the encoded protein. This conserved residue is within the S5-S6 pore loop of transmembrane domain 3. (J:90095)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count