Phgdh^tm1.1Shfu
Targeted Allele Detail

Summary

• Symbol: Phgdh^tm1.1Shfu
• Name: 3-phosphoglycerate dehydrogenase; targeted mutation 1.1, Shigeki Furuya
• MGI ID: MGI:3769591
• Synonyms: Phgdh^-, Phgdh^tm1Bsi
• Gene: Phgdh Location: Chr3:98220487-98247285 bp, - strand Genetic Position: Chr3, 42.74 cM, cytoband E1
• Alliance: Phgdh^tm1.1Shfu page

Small size and brain abnormalities in Phgdh^tm1.1Shfu/Phgdh^tm1.1Shfu 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 details: A 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)

Expression

In Mice Carrying this Mutation:	44 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	8 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: 37 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)