The gene was disrupted at codon 370 by insertion of a neomycin resistance cassette into exon 3 via homologous recombination. Absence of gene expression in homozygous mutant animals was demonstrated by Northern blot analysis of liver, spleen, and brain tissues using the full cDNA sequence as a probe. No enzyme activity was detectable in total protein extracts of liver, spleen, and brain from homozygous mutants. (J:26748)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count