The coding region of Gli2deltaCLR, the 3' UTR of Gli2, three tandem repeats of SV40 polyA sequence, and a floxed neomycin resistance cassette replaced 111 bp of exon 2 (the first coding exon) via homologous recombination. The Gli2deltaCLR protein fails to localize to the cilium but retains intrinsic transcriptional activity and responds to Sufu inhibition. Cre mediated recombination removed the neo cassette. Expression of mutant mRNA and protein is increased about 70% and 8.7-fold, respectively in homozygous embryos compared to wild-type controls. (J:221426)
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