This mutation resulted from the random integration of a transgene (not identified in paper). RT-PCR analysis demonstrated that a transcript with the transgene replacing sequences between exons 16 and 22 was expressed, resulting in the generation of a stop codon at the start of the transgene. The predicted translated product of this fusion transcript lacks all of the known functional domains of the protein. (J:76189)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count