A floxed neo cassette was inserted into intron 5. Western blot analysis confirmed reduced protein expression in heterozygous samples. Cre-mediated recombination is required to remove the neo cassette and restore protein expression. (J:193208)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count