ENU treatment caused a T-to-C mutation that leads to the substitution of a highly conserved leucine with proline at position 480 (p.L480P) in the transmembrane domain. (J:254874)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count