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The centromeric arm of YAC Y593 (human ICI library) was replaced with an amplifiable vector by homologous recombination in yeast before injection into fertilized mouse oocytes. Five to seven copies were inserted in this line. Additional lines produced include PAX88 and PAX130 (both with two copies) and PAX138 (with 10 copies). The 420 kb YAC contains the entire paired box 6 gene (including 160 kb upstream of promoter P1) and the elongator acetyltransferase complex subunit 4 (ELP4) gene (including familial aniridia breakpoints SGL and SIMO in the last intron) minus its first three exons. (J:34194)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
