Mouse BAC RP23-318M13 was used as the basis of the targeting vector. A loxP site was inserted downstream of the sequence containing DNase1 hypersensitivity regions HS1-HS5 (HS5-1). A loxP site flanked neomycin resistance gene cassette was inserted upstream and subsequently removed through in-vitro cre-mediated recombination, leaving a single loxP site upstream of the region. Next, an FRT site flanked neo cassette was inserted upstream of the 5' loxP site. This neo cassette was removed through subsequent flp-mediated recombination. Finally, the regulatory region was deleted through cre-mediated recombination. The regulatory region is located downstream of the Pcdha cluster and regulates expression of its genes. Expression studies show that in mice with this deletion allele, expression of the genes in the Pcdha cluster is reduced. Pcdha10, Pcdha11, and Pcdha12 are most severely affected with expression reduced to less than 10%. (J:277249)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Not Specified
Targeted
Insertion, Intergenic deletion
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1

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

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PMID
Journal
Year
IF
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