插入的PGK-neo cassette打断了编码酪氨酸磷酸化结合(PTB)区域的exon, Western blot结果显示,纯合突变小鼠中没有正常蛋白产物产生。观察到有截短蛋白的存在,经确认是由内含子剪接事件导致的,即目标exon被删除,因此,来自突变等位基因的所有肽序列均缺失了PTB域内的保守残基。(来源:J:76895)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
插入
--
1
8
18

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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