Exons 6 and 7, encoding the DNA binding domain, were replaced with a phosphoglycerate kinase-neomycin-resistance cassette using homologous recombination. RT-PCR analysis showed that deletion of exon 6 and 7 results in the splicing of exon 5 to exon 8, leading to a frame shift and premature termination at an out-of-frame stop codon. Western blot analysis confirmed the absence of protein expression in total testis extracts from homozygous mutant mice. (J:230575)
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