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An A to C change resulting in a glutamate to alanine substitution at amino acid 224 (p.E224A) was introduced in exon 5. Additionally, a neomycin resistance cassette flanked by FRT sites was introduced between exon 5 and 6. The neomycin cassette was removed via flp-mediated recombination. This is an uncoupling point mutation in the gating glutamate, a pore residue critically involved in 2Cl-/H+-exchange. (J:297238)
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
