Gene: Mdh1 MGI:97051

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Gene Summary

Name:
malate dehydrogenase 1, NAD (soluble)
Synonyms:
Mor-2,  MDH-s,  Mor2,  B230377B03Rik

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
embryonic lethality prior to tooth bud stage Mdh1em1(IMPC)Bay HOM   E12.5 0.00
abnormal pharyngeal arch morphology Mdh1em1(IMPC)Bay HOM E9.5 0.00
preweaning lethality, complete penetrance Mdh1em1(IMPC)Bay HOM   Early adult 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

X-ray

XRay Images Forepaw

8 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

VIP of left eye

4 Images

Eye Morphology

VIP of right fundus

4 Images

Eye Morphology

VIP of right eye

4 Images

Eye Morphology

VIP of left fundus

4 Images

Human diseases caused by Mdh1 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 Mdh1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Developmental And Epileptic Encephalopathy 88
OMIM:618959

The table below shows human diseases predicted to be associated to Mdh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Acatalasemia
Reduced catalase level OMIM:614097
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Glyoxalase deficiency, Reduced glutathione synthetase level OMIM:231900
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Lambert Syndrome
Branchial anomaly ORPHA:1296
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Branchiogenic-Deafness Syndrome
Branchial fistula, Branchial cyst OMIM:609166
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly ORPHA:1131
Branchiogenic Deafness Syndrome
Branchial fistula, Branchial cyst ORPHA:50815
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst ORPHA:435938
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Bor Syndrome
Branchial cyst ORPHA:107
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Cystic hygroma, Branchial anomaly ORPHA:453499
Holoprosencephaly
Spinal dysraphism, Short neck, Branchial anomaly ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Cystic hygroma, Branchial anomaly ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Cystic hygroma, Branchial anomaly ORPHA:352665
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Hemifacial Microsomia
Branchial anomaly OMIM:164210
Oligomeganephronia
Branchial cyst ORPHA:2260
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Low posterior hairline, Branchial fistula ORPHA:261337
Treacher-Collins Syndrome
Branchial fistula ORPHA:861
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula ORPHA:261330
Branchiooculofacial Syndrome
Short neck, Low posterior hairline, Branchial anomaly OMIM:113620
8Q24.3 Microdeletion Syndrome
Short neck, Spina bifida occulta, Branchial cyst ORPHA:508488
Developmental And Epileptic Encephalopathy 88
OMIM:618959

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 Mdh1

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 Mdh1.

No publications found that use IMPC mice or data for Mdh1.

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MGI Allele Allele Type Produced
Mdh1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mdh1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mdh1em1(IMPC)Bay Exon Deletion Mice, Tissue
Mdh1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mdh1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mdh1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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