In vivo Cre-mediated recombination removed the floxed neo cassette leaving just the S248F (TCG to TTT) in exon 5 in the putative M2 region. This mutation had little effect on nicotinic acetylcholine receptor ligand binding; however, dopamine release mediated by receptor complexes containing the mutated subunit was decreased at high agonist concentrations. (J:125305)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count