A loxP site was inserted upstream of exon 49 and a floxed neo cassette was inserted downstream of a modified exon 50. A point mutation at amino acid D2338 results in a kinases dead protein. (J:162945)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count