Gene: Pdhb MGI:1915513
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The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
abnormal somite shape | Pdhbem1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal forebrain development | Pdhbem1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
preweaning lethality, complete penetrance | Pdhbem1(IMPC)Bay | HOM | Early adult | 0.00 | ||
abnormal embryo size | Pdhbem1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal embryo turning | Pdhbem1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
preweaning lethality, incomplete penetrance | Pdhbem1(IMPC)Bay | HOM | Early adult | 0.00 | ||
embryonic growth retardation | Pdhbem1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal pharyngeal arch morphology | Pdhbem1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
abnormal neural tube morphology | Pdhbem1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
embryonic lethality prior to tooth bud stage | Pdhbem1(IMPC)Bay | HOM | E12.5 | 0.00 | ||
abnormal retina blood vessel morphology | Pdhbem1(IMPC)Bay | HET | Early adult | 8.14×10-05 |
Human diseases caused by Pdhb mutations
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Pdhb by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Pyruvate Dehydrogenase E1-Beta Deficiency | Intrauterine growth retardation | ORPHA:255138 | |
Pyruvate Dehydrogenase E1-Beta Deficiency | OMIM:614111 |
The table below shows human diseases predicted to be associated to Pdhb by phenotypic similarity.
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MGI Allele | Allele Type | Produced |
---|---|---|
Pdhbem1(IMPC)Bay | Exon Deletion | Mice |
Pdhbtm231174(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
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