An R183W mutation was inserted into exon 3 via homologous recombination. A floxed neo cassette was removed by Cre mediated recombination. Expression pattern of the mutant protein is similar to wild-type. (J:111260)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count