A G602D point mutation was inserted with a loxP-flanked neo in the 3' UTR. The neo was subsequently removed via cre-mediated recombination. RT-PCR detected comparable expression between mutants and wild-types. (J:112689)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count