Exons 44 to 47, encoding the kinase domain, were replaced by an IRES-Betageo-pA cassette. Northern blot of heterozygous ES cells showed reduced expression and detected a larger transcript, corresponding to the fusion of Frap1 to Betageo. Western blot showed that protein levels were also reduced. (J:92252)
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