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Gene: Mdh2 MGI:97050

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Gene Summary

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

Order Alleles

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

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E9.5

Embryo reconstruction

6 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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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
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Craniofacial Microsomia 2
Dermal sinus tract OMIM:620444
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ... ORPHA:1908
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Alg3-Cdg
Neural tube defect ORPHA:79321
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Holo... ORPHA:63259
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Semilobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Short stature, Growth delay, Hydrocephalus, Neural tube defect ORPHA:93924
Schinzel-Giedion Syndrome
Neural tube defect, Umbilical hernia ORPHA:798
Hereditary Pheochromocytoma-Paraganglioma
ORPHA:29072
Developmental And Epileptic Encephalopathy 51
OMIM:617339

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

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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