To generate an allele in which the expression of the alpha isoform is completely ablated while the expression of the beta isoform is maintained, cDNA encoding the C-terminal of the beta isoform, as well as a polyA-neo cassette, was inserted into exon 20. RT-PCR and Western blot analyses of homozygous mutant liver confirmed the absence of the alpha isoform. Comparisions with the level of alpha isoform transcript and protein in wild-type mice indicated that while the level of beta isoform transcript is equivalent, the level of beta isoform protein is reduced. (J:89194)
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