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Targeted Allele Detail
Symbol: Pdha1tm1.1Ptl
Name: pyruvate dehydrogenase E1 alpha 1; targeted mutation 1.1, Mulchand S Patel
MGI ID: MGI:2386704
Synonyms: Pdha1delta ex8
Gene: Pdha1  Location: ChrX:160122209-160138413 bp, - strand  Genetic Position: ChrX, 73.95 cM, cytoband F3-F4
Germline Transmission:  Earliest citation of germline transmission: J:74192
Parent Cell Line:  E14.1 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsThe floxed region of Pdha1tm1Ptl containing exon 8 was excised by the expression of cre recombinase in vivo. Studies of an ES cell line recombined in vitro showed highly reduced levels of endogenous protein as well as a near ablation of pyruvate dehydrogenase activity. (J:74192)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 1 anatomical structures
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 Pdha1 Mutation:  22 strains or lines available
Original:  J:74192 Johnson MT, et al., Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development. Mol Genet Metab. 2001 Nov;74(3):293-302
All:  2 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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MGI 6.16
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