A targeting vector was designed to replace exons 25-27, encoding the PARP domain, with a neomycin resistance cassette. The vector was designed using the exon nomenclature in J:71663. This allele was expected to produce a null, however, truncated proteins were expressed from the locus that lacked the catalyitic PARP domain. Smaller proteins putatively contain the ANK and SAM domains and larger proteins are probably variants splicing the truncated protein to the downstream neo. (J:106917)
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