第六外显子被替换为一个,其中由腺嘌呤(A)替换为胞嘧啶(C)导致第211位氨基酸(艾尔氨酸,E211)由谷氨酸(Glu)变为天冬氨酸(Asp)。下游插入的条件性neo cassette通过Cre介导的重组被去除了。这种替换使得Cl- / H+转运蛋白转变为不耦联的Cl-传导器。(来源:J:160701)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Single point
--
1
5
1

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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