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Hif1atm1Mcs
Targeted Allele Detail
Nomenclature
Symbol: Hif1atm1Mcs
Name: hypoxia inducible factor 1, alpha subunit; targeted mutation 1, M Celeste Simon
MGI ID: MGI:3613537
Synonyms: HIF-1alpha2alpha
Gene: Hif1a  Location: Chr12:73901375-73947530 bp, + strand  Genetic Position: Chr12, 31.99 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:97164
Parent Cell Line:  TL1/TL-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 1, containing the ATG, was replaced with a c-Myc epitope tagged Epas1 cDNA and floxed PGK-neo such that knock in expression depends upon the endogenous regulatory sequence. Mutant ES cells expressed reduced levels of endogenous protein and proved to be hypomrphic. RACE confirmed that a novel transcript was created originating from the PGK promoter. This transcript contained an in-frame methionine codon 11 amino acids downstream of the ATG, wich resulting in deletion of three lysine residues within the DNA binding domain. EMSA showed reduced DNA binding-activity in mutant ES cells. (J:97164)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Hif1a Mutation:  11 strains or lines available
References
Original:  J:97164 Covello KL, et al., Targeted replacement of hypoxia-inducible factor-1alpha by a hypoxia-inducible factor-2alpha knock-in allele promotes tumor growth. Cancer Res. 2005 Mar 15;65(6):2277-86
All:  1 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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last database update
06/30/2020
MGI 6.15
The Jackson Laboratory