A loxP site was inserted into exon5 and a loxP-flanked neo was inserted in intron 8. The exon 6 within the vector contained a G286S substitution. The G286S substitution lies within the conserved GYG motif in the P-segment and abolishes channel activity in homomeric mutant channels as well as in a heteromer with wild-type subunits. Cre-recombinase treatment after homologous recombination in the ES cells removed the neo cassette resulting in a dominant negative mutation. (J:105924)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion
--
1
6
3

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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