Sequence encoding the core PIKK kinase domain of the protein protein product were floxed by placing a loxP site upstream of exon 57 and floxed neomycin cassette downstream of exon 58. The neomycin cassette was subsequently removed by transient infection of cre recombinase. (J:138190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count