Epas1^tm1.1Fsl
Targeted Allele Detail

Summary

• Symbol: Epas1^tm1.1Fsl
• Name: endothelial PAS domain protein 1; targeted mutation 1.1, Frank Lee
• MGI ID: MGI:5518445
• Synonyms: Hif2a^G536W
• Gene: Epas1 Location: Chr17:87061292-87140838 bp, + strand Genetic Position: Chr17, 56.9 cM
• Alliance: Epas1^tm1.1Fsl page

Mutation origin

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

Mutation description

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 Epas1^tm1.1Fsl allele

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: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)