A floxed neomycin resistance cassette and an N-terminally flag tagged human cDNA encoding a mutant form with the R465C substitution were inserted into intron 1. Cre-mediated recombination is required to achieve expression of the cDNA. (J:200006)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count