A neomycin selection cassette was inserted into exon 4, upstream of approximately 90% of the protein product including the conserved motifs involved in ATPase activity. Sequence analysis showed that excision of the disrupted exon would result in a frameshift mutation. The absence of transcript and protein was determined by Northern and Western blot analysis. (J:39642)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count