Gene Summary

Name:
malate dehydrogenase 2, NAD (mitochondrial)
Synonyms:
Mdh-2,  Mor-1,  Mor1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal midbrain development Mdh2em1(IMPC)Bay HOM E9.5 0.00
abnormal neural tube closure Mdh2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Mdh2em1(IMPC)Bay HOM E9.5 0.00
abnormal forebrain development Mdh2em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Mdh2em1(IMPC)Bay HOM   Early adult 0.00
abnormal vitelline vasculature morphology Mdh2em1(IMPC)Bay HOM E9.5 0.00
embryonic growth retardation Mdh2em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo size Mdh2em1(IMPC)Bay HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Mdh2em1(IMPC)Bay HOM   E12.5 0.00
abnormal neural tube morphology Mdh2em1(IMPC)Bay HOM E9.5 0.00

Download data as:  TSV  XLS

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

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Mdh2 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 Mdh2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 51
Hypoplasia of the corpus callosum OMIM:617339
Hereditary Pheochromocytoma-Paraganglioma
ORPHA:29072

The table below shows human diseases predicted to be associated to Mdh2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Craniorachischisis
Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Alg3-Cdg
Neural tube defect, Cerebral white matter atrophy, Abnormal cerebral morphology, Subcortical cere... ORPHA:79321
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Intrauterine growth retardation, Anencephaly, Short stature, Holoprosencephaly, Hydr... ORPHA:1908
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Diabetic Embryopathy
Aplasia/Hypoplasia of the corpus callosum, Spinal dysraphism, Hydrocephalus, Microcephaly ORPHA:1926
Iniencephaly
Myelomeningocele, Anencephaly, Holoprosencephaly, Rhizomelia, Lissencephaly, Spina bifida, Hydroc... ORPHA:63259
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Short stature, Microcephaly OMIM:617660
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Spinal dysraphism OMIM:612918
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Short stature OMIM:603546
Alobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Growth delay, Neural... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Growth delay, Neural... ORPHA:93926
Lobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Growth delay, Neural... ORPHA:93924
Semilobar Holoprosencephaly
Abnormal hypothalamus physiology, Abnormal morphology of the olfactory bulb, Growth delay, Neural... ORPHA:220386
Schinzel-Giedion Syndrome
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Umbilical hernia, Neural tube defect ORPHA:798
Developmental And Epileptic Encephalopathy 51
Hypoplasia of the corpus callosum OMIM:617339
Hereditary Pheochromocytoma-Paraganglioma
ORPHA:29072

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 Mdh2

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 Mdh2.

No publications found that use IMPC mice or data for Mdh2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Mdh2em1(IMPC)Bay Exon Deletion Mice
Mdh2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mdh2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mdh2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mdh2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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