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A modified BAC from the RPCI-11 library containing the human NR2E1 gene with a double-base pair candidate regulatory variant, an AG to CA change at position 14128/9 (p.R276Q), was inserted into the Hprt1 locus. This newly modified BAC is termed bEMS113. (J:267111)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
