A floxed neo cassette was inserted into exon 9 via homologous recombination resulting in a premature stop codon between the DNA-binding domain and the CTA domain. The targeted mutation results in a hypomorphic allele. Northern blot analysis of homozygous mutant embryos showed 2 gene transcripts at 10% the level of wild-type transcription. Western blot analysis detected a truncated protein expressed at very low levels. Enzyme assay determined that the truncated protein exhibits 50%-60% of the activity of normal protein. (J:63242)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count