A G>A mutation (c.1690G>A) was engineered to change glycine codon 564 in exon 11 to a serine codon (p.G564S) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 12. The neo cassette was removed through subsequent cre-mediated recombination. The mutation is a gain-of-function mutation leading to a severe reduction in capsaicin and noxious heat sensitivity. (J:278209)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count