The gene was disrupted by the deletion of part of exons 9 and 10 containing the ATP-binding site necessary for catalytic activity, and introducing an in-frame stop codon into exon 10. Northern blot of kidney, lung and thymus of mutants showed a lack of mRNA, and Western blot of kidney and liver confirmed a null protein. (J:94650)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count