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A G-to-A mutation was introduced into exon 15, changing arginine codon 528 (CGC) to a histidine codon (CAC), and an FRT site flanked puromycin resistance gene cassette was inserted into intron 15. The puro cassette was removed through subsequent flp-mediated recombination. The mutation is found in familial hyperkalemic hypertension (FHHt) patients. (J:306924)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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 |
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References Literature
Title
PMID
Journal
Year
IF
