Exons 5-8 were replaced with a loxP site, a puromycin cassette flanked by FRT F3 sites, exons 5-7, a neomycin cassette flanked by FRT sites, a loxP site, and an exon 8 containing a C to A mutation at position 1152 resulting in an asparagine to lysine substitution at amino acid 384 (N384K). Flp-mediated recombination removed the selection markers. Western blot analysis of fetal brain tissue confirmed expression of protein. (J:253467)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count