Epas1^em1.1Zhezh
Endonuclease-mediated Allele Detail

Summary

• Symbol: Epas1^em1.1Zhezh
• Name: endothelial PAS domain protein 1; endonuclease-mediated mutation 1.1, Zhengping Zhuang
• MGI ID: MGI:8314962
• Synonyms: Epas1^A529V
• Gene: Epas1 Location: Chr17:87061292-87140838 bp, + strand Genetic Position: Chr17, 56.9 cM
• Alliance: Epas1^em1.1Zhezh page

Mutation origin

• Strain of Origin: C57BL/6 x 129

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Arginine codon 529 (GCA) was changed to valine (GTA) (p.A529V) using TALENs. The loxP site flanked neomycin resistance gene cassette that was inserted into intron 11 was removed through subsequent Cre-mediated recombination. The mutation, in the oxygen degradation domain (ODD) of the encoded protein, is the equivalent of the human p.A530V mutation associated with PacakZhuang Syndrome (paraganglioma, somatostatinoma and polycythemia). In mice it leads to polycythemia. (J:380927)

Expression

In Structures Affected by this Mutation:

1 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:380927 Wang H, et al., A Transgenic Mouse Model of Pacak(-)Zhuang Syndrome with An Epas1 Gain-of-Function Mutation. Cancers (Basel). 2019 May 14;11(5)
• All: 1 reference(s)