这项研究确定了导致猛鼠特有表型的遗传突变源于Nr2e1基因的缺失。通过Southern分析确认了基因组的这一缺失,而纯合突变小鼠的Northern分析中未检测到转录本。包含NR2E1基因的人类BAC转基因能够恢复这些小鼠的突变表型。引用信息:J:99431(之前为J:71869, J:99431)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Spontaneous
基因内删除
--
1
--
11

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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