A T to G transversion results in the amino acid substitution of leucine to tryptophan at position 446 (L450W). Cre-mediated recombination removed the neomycin resistance cassette. (J:214908)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count