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Nucleotide substitutions result in the amino acid substitution of alanine for glutamic acid at position 245 (E245A). This mutation is predicted to uncouple the chloride ion conduction from the proton exchanger function. An frt flanked neo cassette inserted upstream of exon 8 was removed by flp mediated recombination. (J:160702)
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
