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

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion
--
1
3
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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