This mutation, discovered by its phenotype among the progeny of an ENU-treated male mouse, is an adenine-to-thymine substitution at nucleotide position 161 that results in the replacement of glutamine by leucine at amino acid position 54 of the protein. (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count