一个包含2-4号外显子(编码19-105位氨基酸)的5.5kb区域通过同源重组被neo抗性基因座替换。纯合突变动物通过 Western blot 分析视网膜蛋白,结果显示缺乏蛋白产物。突变视网膜不表达G蛋白β5(GNB5-L)的长形式,但其mRNA水平正常;然而,突变小鼠视网膜和纹状体中检测到了GNB5-S正常蛋白水平。(文献来源:J:60188, J:83620)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
插入,基因内删除
--
1
3
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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