Exon 1 was disrupted by the insertion of a neo cassette. Northern blot, RT-PCR, and western blot analysis confirmed the absence expression RNA and protein of the 2a isoform. RT-PCR confirmed the expression of the 2b isoform. (J:176349)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count