在第28外显子的Glycine第1663位(GGC)被替换为Serine(AGC),导致p.G1663S的变异。随后,插入了loxP位点、抗氨苄青霉素耐药基因座、Cre基因座以及第二个loxP位点到第27内含子。neo和Cre基因座能自我剪切。这个变异等同于人类的p.G1662S功能增强突变,与特发性痛觉性小纤维神经病(SFN)相关(J:342722)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NCrl
Targeted
Insertion, Single point
--
1
7
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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