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Mutations were introduced at each of the 3 AB sites (AB-1, AB-2, and AB-3) located in the imprinting control region (ICR) upstream of the H19 transcription start site. Single loxP sites remained flanking the ICR after a floxed cassette containing a neomycin resistance gene and a cre recombinase gene was self-excised. The mutations were shown by EMSA to ablate binding activity. Imprint establishment and maintenance was unaffected in mutant mice. (J:86440)
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
