设计了一个靶向载体,目标是将酪氨酸499替换为苯丙氨酸(Y499F),并插入第13号外显子的终止子。载体中包含了一个IRE-Sneomycin序列。RT-PCR证实了突变序列。 Western blot检测到了该位点产生的两种异构体水平的降低。(来源:J:111432)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
单点
--
1
1
2

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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