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Egln3tm1Jomy
Targeted Allele Detail
Summary
Symbol: Egln3tm1Jomy
Name: egl-9 family hypoxia-inducible factor 3; targeted mutation 1, Johanna Myllyharju
MGI ID: MGI:5583030
Synonyms: Hif-p4h-3-
Gene: Egln3  Location: Chr12:54225767-54250646 bp, - strand  Genetic Position: Chr12, 22.9 cM
Alliance: Egln3tm1Jomy page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:213191
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsMutant mice were generated by replacing exon 2 with a neo-selection cassette flanked by loxP sites. RT-PCR verified that exon 2 is missing from the expressed transcript. The expressed protein is missing 2 amino acids required for binding of Fe2+ at the catalytic site, resulting in complete loss of the enzyme activity. (J:213191)
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 Egln3 Mutation:  24 strains or lines available
References
Original:  J:213191 Laitala A, et al., Transmembrane prolyl 4-hydroxylase is a fourth prolyl 4-hydroxylase regulating EPO production and erythropoiesis. Blood. 2012 Oct 18;120(16):3336-44
All:  3 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
04/23/2024
MGI 6.23
The Jackson Laboratory