A 3 kb genomic fragment including exons 2 and 3, which encode the BRCT domain, was replaced with a pgk-hyg cassette via homologous recombination. RT-PCR and western blot analysis of ES cells confirmed the expression of a truncated transcript and protein, respectively. (J:150258)
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