A targeting vector replaces exons 6 and 7 with a fusion of exons 6 and 7 and a floxed neo cassette. Cre mediated recombination removed the neo cassette. This mutation prevents expression of the shorter isoforms of the gene. qPCR analysis confirmed the absence of the N-terminal splice variant and the presence of the long isoform in tissues from homozygous mice. (J:264627)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count