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Gene: Dlat MGI:2385311

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Gene Summary

Name:
dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex)
Synonyms:
PDC-E2,  6332404G05Rik

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IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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
decreased exploration in new environment Dlatem1(IMPC)J HET Early adult 2.12×10-07
preweaning lethality, complete penetrance Dlatem1(IMPC)J HOM   Early adult 0.00
decreased prepulse inhibition Dlatem1(IMPC)J HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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MicroCT E18.5

Embryo reconstruction

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Dlat 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 Dlat by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pyruvate Dehydrogenase E2 Deficiency
Dementia, Anxiety ORPHA:79244
Pyruvate Dehydrogenase E2 Deficiency
OMIM:245348

The table below shows human diseases predicted to be associated to Dlat by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pyruvate Dehydrogenase E2 Deficiency
Dementia, Anxiety ORPHA:79244
Pyruvate Dehydrogenase E2 Deficiency
OMIM:245348

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dlat

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dlat.

No publications found that use IMPC mice or data for Dlat.

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MGI Allele Allele Type Produced
Dlattm39548(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dlatem1(IMPC)J Exon Deletion Mice
Dlattm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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