Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Epas1tm1.1Fsl
Name:	endothelial PAS domain protein 1; targeted mutation 1.1, Frank Lee
MGI ID:	MGI:5518445
Synonyms:	Hif2aG536W
Gene:	Epas1  Location: Chr17:87061292-87140838 bp, + strand  Genetic Position: Chr17, 56.9 cM
Alliance:	Epas1tm1.1Fsl page

Germline Transmission:	Earliest citation of germline transmission: J:199595
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	C57BL/6

Allele Type:    Targeted (Humanized sequence) Mutations:    Insertion, Nucleotide substitutions   Mutation details: Exon 12 was replaced with one with nucleotide substitutions (GGC>TGG) that result in the amino acid substitution of glycine with tryptophan at position 536 (p.G536W). Cre-mediated recombination removed the loxP site flanked neomycin resistance gene cassette that was inserted into intron 12. (J:199595)

Generation of the Epas1tm1.1Fsl allele

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

In Structures Affected by this Mutation:

5 anatomical structure(s)

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:	64 strains or lines available

Original:	J:199595 Tan Q, et al., Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation. J Biol Chem. 2013 Jun 14;288(24):17134-44
All:	2 reference(s)