Exons 3 through 5, encoding the ATP binding site, were replaced with a hygromycin selection cassette inserted by homologous recombination. Transcript was undetected by Northern blot analysis of skeletal muscle, heart, and brain tissue obtained from homozygous mutant mice. Zymogram analysis of various tissues confirmed the absence of functional protein. (J:66101)
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