A loxP site was inserted upstream of the first coding exon (exon S). An FRT-flanked neo cassette with a 3' loxP site was inserted downstream of the first coding exon (exon S). Reduced protein expression was confirmed by western blot analysis on cortex, striatum, and substantia nigra extracts. This is a hypomorphic allele. (J:170724)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count