The gene was disrupted by insertion of a large cassette containing 3 duplicated exons and a neomycin resistance gene. RT-PCR and sequence analysis of mRNA from homozygous mutant animals detected a premature stop codon. Absence of gene expression in homozygous animals was confirmed by Western blot analysis. (J:82755, J:243745)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count