A construct containing a loxP site, the wild-type Gjb6 coding sequence, a frt-flanked neomycin resistance cassette, another loxP site, the Gjb6 coding sequence with a point mutation leading to a substitution of an alanine reside on position 88 by a valine residue (A88V), an IRES, and a lacZ gene with a nuclear localization signal replaced the endogenous locus. The neomycin resistance cassette was removed via flp-mediated recombination. Cre-mediated recombination was used to delete the wild-type Gjb6 coding sequence, leaving the A88V mutant Gjb6, IRES, and the NLS-lacZ. PCR confirmed the expression of the mutant. (J:208123)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd-Hprt1b-m3
Targeted
Insertion, Nucleotide substitutions
--
1
9
5

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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