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Epas1tm1Pec
Targeted Allele Detail
Nomenclature
Symbol: Epas1tm1Pec
Name: endothelial PAS domain protein 1; targeted mutation 1, Peter Carmeliet
MGI ID: MGI:2663583
Synonyms: Hif2alpha-
Gene: Epas1  Location: Chr17:86753907-86833410 bp, + strand  Genetic Position: Chr17, 56.9 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:83549
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe gene was disrupted by replacement of exon 2 with a neomycin resistance cassette via homologous recombination. Exon 2 encodes the basic helix-loop-helix domain which is essential for DNA binding and dimerization. (J:83549)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Epas1 Mutation:  43 strains or lines available
References
Original:  J:83549 Brusselmans K, et al., Heterozygous deficiency of hypoxia-inducible factor-2alpha protects mice against pulmonary hypertension and right ventricular dysfunction during prolonged hypoxia. J Clin Invest. 2003 May;111(10):1519-27
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory