A 1.9 kb fragment of the gene was disrupted by the insertion of a neomycin resistance cassette. Exon 2 (hosting the ATP binding site) and the 5' slice site of intron 2/3 were shifted out of frame. Multi-tissue Western blotting confirmed ablation of this gene in all tissues of homozygous null-mice.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count