A neomycin selection cassette replaced sequence encoding part of the DNA-dependent ATPase domain. The deleted region encoded helicase motif 1, which contains the ATP binding site, and helicase motif 1a. The allele was expected to encode a chimeric protein, though while Northern blot analysis identified transcripts containing both endogenous and neo transgene elements, protein was undetected by Western blot analysis. (J:66861)
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