Exon 3 was disrupted by the insertion of a neomycin selection cassette. Transcript was undetected by RT-PCR analysis of brain tissue obtained from homozygous mutant mice. Enzymatic activity assays showed a lack of activity in homozygous mutant mice and levels reduced to 60 to 70% of wild-type in heterozygotes. (J:67779)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count