外显子1被替换为一个,其中A到T的转换导致第81位的酪氨酸(F81Y)被苯丙氨酸取代。下游插入了一个FRT引导的neo cassette,通过Flp介导的重组移除了neo cassette。 Western blot结果显示蛋白表达减少了2倍。(来源:J:185275)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S6/SvEvTac
Targeted
Insertion, Single point
--
1
1
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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