A mouse sonic hedgehog cDNA lacking the sequence for the cholesterol attachment and with a p.C25S mutation (to prevent palmitoylation of the peptide) was placed under the control of the mouse paired related homeobox 1 enhancer to drive its expression in embryonic limb buds. The NonCholesterol Modified mutation involves inserting a loxP site flanked neomycin resistance gene cassette into the coding region in exon 3 upstream of the cholesterylation site, which results in a premature stop codon after glycine codon 198. The neo cassette was removed through subsequent cre-mediated recombination. (J:89228)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count