A c.896G>A mutation was engineered in exon 7 changing arginine codon 299 to a glutamine codon (p.Arg299Gln). This mutation is the equivalent of the human R302Q mutation which causes increased unstimulated activity and is associated with a cardiac phenotype. An FRT site flanked neomycin resistance gene cassette was inserted into intron 6 and removed later through flp-mediated recombination. In addition, loxP sites were inserted within intron 6 upstream and within intron 7 downstream from the mutation. (J:235379, J:256296)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S/SvEv
Targeted
Insertion, Single point
--
1
6
4

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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