Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}
Targeted Allele Detail

Summary

• Symbol: Gt(ROSA)26Sor^{tm4(HIF2A*)Kael}
• Name: gene trap ROSA 26, Philippe Soriano; targeted mutation 4, William G Kaelin
• MGI ID: MGI:3832386
• Synonyms: Epas1^LSL, HIF2dPA, LSL-HIF2dPA, ROSA26-HA-HIF2dPA
• Gene: Gt(ROSA)26Sor Location: Chr6:113044389-113054205 bp, - strand Genetic Position: Chr6, 52.73 cM
• Alliance: Gt(ROSA)26Sor^{tm4(HIF2A*)Kael} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:144666
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, Inserted expressed sequence)
• Mutations: Insertion, Nucleotide substitutions
• Gt(ROSA)26Sor^{tm4(HIF2A*)Kael} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  EPAS1 (2034)

  Epas1

  (MGI:109169)

• Mutation details: DNA encoding influenza virus hemagglutinin A- (HA-) tagged human hypoxia-inducible factor 2 alpha (HIF2alpha) with nucleotide substitutions leading to replacement of proline by alanine at amino acid positions 405 and 531 (P405A;P531A), preceded by a floxed neo-STOP cassette, was inserted into the targeted locus. The STOP sequence must be removed by Cre-mediated recombination to allow for expression of the mutated coding sequence. The amino acid substitutions prevent oxygen-dependent prolyl hydroxylation at a.a. position 405 or 531, which is required for binding by von Hippel-Lindau tumor suppressor (VHL). (J:144666)

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Gt(ROSA)26Sor Mutation: 994 strains or lines available

References

• Original: J:144666 Kim WY, et al., Failure to prolyl hydroxylate hypoxia-inducible factor alpha phenocopies VHL inactivation in vivo. EMBO J. 2006 Oct 4;25(19):4650-62
• All: 19 reference(s)