111 bp of the coding region of the catalytically active exon 7 was replaced with a STOP codon, IRES sequence, lacZ reporter gene and FRT flanked neomycin resistance cassette. Flp-mediated recombination removed the neomycin resistance cassette. Western blot analysis confirmed the absence of protein expression in the cerebellum and forebrain. (J:201327)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count