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Phgdhtm1.1Shfu
Targeted Allele Detail
Summary
Symbol: Phgdhtm1.1Shfu
Name: 3-phosphoglycerate dehydrogenase; targeted mutation 1.1, Shigeki Furuya
MGI ID: MGI:3769591
Synonyms: Phgdh-, Phgdhtm1Bsi
Gene: Phgdh  Location: Chr3:98220487-98247285 bp, - strand  Genetic Position: Chr3, 42.74 cM, cytoband E1
Alliance: Phgdhtm1.1Shfu page
Small size and brain abnormalities in Phgdhtm1.1Shfu/Phgdhtm1.1Shfu embryos

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:128777
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsA floxed neo cassette was inserted upstream of exon 4 and an additional loxP site was inserted downstream of exon 5. The neo cassette along with exons 4 and 5 were removed by cre-mediated recombination. These exons encode the NAD+ and substrate binding domains. The authors state that this allele is a null allele. The absence of full-length transcript and the presence of a truncated transcript was confirmed by northern blot analysis. (J:128777)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 44 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 9 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 Phgdh Mutation:  34 strains or lines available
References
Original:  J:128777 Yoshida K, et al., Targeted disruption of the mouse 3-phosphoglycerate dehydrogenase gene causes severe neurodevelopmental defects and results in embryonic lethality. J Biol Chem. 2004 Jan 30;279(5):3573-7
All:  5 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
03/19/2024
MGI 6.23
The Jackson Laboratory