在基因Arginine的第654位(CGA)的第20外显子被替换为色氨酸(TGG),导致位点p.R654W。附着在第19内含子附近的loxP位点引导的诺卡因抗性基因座通过Cre介导的重组已被移除。 Western blot结果显示突变体和野生型的蛋白质水平大致相当。(来源:J:105548)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
Targeted
Insertion, Nucleotide substitutions
--
1
14
4

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
No Data Found!
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