A G to A missense mutation was introduced to correspond to the GAG to AAG mutation found in human SUR1-E1506K carriers. Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of exon 36. Western blot analysis confirmed reduced protein expression in the islet. (J:208932)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S2/SvPas
Targeted
Insertion, Single point
--
1
15
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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