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EN
A TCT to TAG change resulting in a threonine to methionine substitution at amino acid 58 (p.T58M) was introduced into exon 1. A loxP flanked neomycin selection cassette that was inserted downstream of exon 1 was removed via cre-expression in ES cells. This mutation corresponds to the p.T60M variant that is common in patients with Gitelman syndrome. (J:338297)
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
