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A 2.5 kb genomic fragment, containing the conserved EI region spanning the SIMO breakpoint in the human familial aniridia breakpoint region, was placed upstream of the Hsp68 promoter driven beta-galactosidase (lacZ) reporter gene and SV40 poly(A) signal sequences. The fragment is located in the last intron of the elongator acetyltransferase complex subunit 4 gene. Ten transgene expressing lines were established, showing expression in the lens, diencephalon and hindbrain. (J:265823)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
