A targeting vector containing a 2.0-kb cDNA fragment encoding exons 9 through 19 and a neo cassette was used to disrupt exons 8 through 12. Elimination of the alternative transcription start site in intron 10 results in expression of the full length (FL) mRNA transcript, but not the short-form (SF) transcript. RT-PCR analysis on spleen, bone marrow, and testis detected only long form transcript. (J:215969)
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