A puromycin resistance cassette flanked by loxP sites was introduced between exon 1 and 2. Venus cDNA was inserted onto the start ATG of the open reading frame which codes for the transcript variant a. Additionally, a silent point mutation was introduced to obtain an NcoI restriction site. The Venus and Clcn3 sequences are separated by a 12 bp linker. The puromycin cassette was removed via cre-mediated recombination. (J:297238)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count