Gene: Mdh1 MGI:97051
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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 |
---|---|---|---|---|---|---|
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 | ||
thick ventricular wall | Mdh1em1(IMPC)Bay | HET | Early adult | 2.57×10-06 | ||
decreased exploration in new environment | Mdh1em1(IMPC)Bay | HET | Early adult | 1.60×10-05 | ||
preweaning lethality, complete penetrance | Mdh1em1(IMPC)Bay | HOM | Early adult | 0.00 |
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 circulating enzyme concentration or activity | OMIM:125460 | |
Alcohol Sensitivity, Acute | Reduced acetaldehyde dehydrogenase level | OMIM:610251 | |
Acatalasemia | Reduced catalase level | OMIM:614097 | |
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 cyst, Branchial fistula | OMIM:609166 | |
Branchiootic Syndrome 1 | Branchial fistula | OMIM:602588 | |
X-Linked Mandibulofacial Dysostosis | Branchial anomaly, Webbed neck | ORPHA:1131 | |
Verheij Syndrome | Branchial cyst, Short neck | OMIM:615583 | |
Branchiogenic Deafness Syndrome | Branchial cyst, Branchial fistula | ORPHA:50815 | |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome | Branchial cyst | ORPHA:435938 | |
Branchiootorenal Syndrome 1 | Branchial cyst, Branchial fistula | OMIM:113650 | |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome | Increased nuchal translucency, Branchial anomaly, Cystic hygroma | ORPHA:453499 | |
Branchiootic Syndrome | Branchial fistula | ORPHA:52429 | |
Bor Syndrome | Branchial cyst | ORPHA:107 | |
Holoprosencephaly | Encephalocele, Branchial anomaly, Spinal dysraphism, Short neck | ORPHA:2162 | |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation | Increased nuchal translucency, Branchial anomaly, Cystic hygroma | ORPHA:453504 | |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion | Increased nuchal translucency, Branchial anomaly, Cystic hygroma | ORPHA:352665 | |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation | Branchial anomaly | ORPHA:466950 | |
Oligomeganephronia | Branchial cyst | ORPHA:2260 | |
Distal 22Q11.2 Microdeletion Syndrome | Branchial fistula | ORPHA:261330 | |
Treacher-Collins Syndrome | Encephalocele, Branchial fistula | ORPHA:861 | |
Distal 22Q11.2 Microduplication Syndrome | Branchial fistula, Low posterior hairline, Webbed neck | ORPHA:261337 | |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome | Branchial cyst, Natal tooth | OMIM:620186 | |
8Q24.3 Microdeletion Syndrome | Branchial cyst, Spina bifida occulta, Short neck | ORPHA:508488 | |
Branchiooculofacial Syndrome | Branchial anomaly, Low posterior hairline, Short neck | OMIM:113620 | |
Witteveen-Kolk Syndrome | Branchial fistula | OMIM:613406 | |
Craniofacial Microsomia 1 | Occipital encephalocele, Branchial anomaly | OMIM:164210 | |
Developmental And Epileptic Encephalopathy 88 | OMIM:618959 |
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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 |
Mdh1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Mdh1tm3a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Mdh1tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Mdh1em1(IMPC)Bay | Exon Deletion | Mice |
Mdh1tm2e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
Mdh1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Mdh1tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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