Epas1<tm1Pec> Targeted Allele Detail MGI Mouse (MGI:2663583)

Epas1^tm1Pec
Targeted Allele Detail

Summary

Symbol:	Epas1^tm1Pec
Name:	endothelial PAS domain protein 1; targeted mutation 1, Peter Carmeliet
MGI ID:	MGI:2663583
Synonyms:	Hif2alpha^-
Gene:	Epas1 Location: Chr17:87061292-87140838 bp, + strand Genetic Position: Chr17, 56.9 cM
Alliance:	Epas1^tm1Pec page

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 details: The 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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:	66 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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