LoxP sites flanking exon 27 and a PGK-neo cassette were introduced via homologous recombination. Exon 27 was deleted in correctly targeted ES cells by transient expression of cre-recombinase. This exon encodes the C-terminal domain, which interacts with Rad51, contains a nuclear localization signal, and is required for maintenence of genomic stability in the event of DNA damage. RT-PCR analysis of testes RNA from mutant animals using exon 27-specific primers did not detect transcripts. However, authors were unable to confirm absence of protein expression because antibodies specific to this protein are currently not available. (J:75026)
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