Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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:158905205-158921409 bp, - strand  Genetic Position: ChrX, 73.95 cM, cytoband F3-F4
Alliance:	Pdha1tm1.1Ptl page

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 details: The 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 structure(s)

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:	23 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)