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Mdh1 Gene Detail
Summary
  • Symbol
    Mdh1
  • Name
    malate dehydrogenase 1, NAD (soluble)
  • Synonyms
    B230377B03Rik, MDH-s, Mor2, Mor-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:97051
    NCBI Gene: 17449
Location & Maps
more
  • Sequence Map
    Chr11:21556787-21572367 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15581 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 13.89 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    MDH1, malate dehydrogenase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MDH1, malate dehydrogenase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    HEL-S-32, MDHA, MDH-s, MGC:1375, MOR2
  • Links
    NCBI Gene ID: 4190
    neXtProt AC: NX_P40925

  • Chr Location
    2p13.3; chr2:63588609-63607197 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    23
  • Chemically and radiation induced
    3
  • Chemically induced (ENU)
    7
  • Chemically induced (other)
    2
  • Gene trapped
    3
  • Radiation induced
    1
  • Targeted
    7
  • Genomic Mutations
    1 involving Mdh1
  • Incidental Mutations
An ENU-induced mutation results in prenatal lethality in homozygotes and decreased enzyme activity in heterozygotes.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005249 VEGA Gene Model | MGI Sequence Detail 15581 C57BL/6J ±  kb
transcript OTTMUST00000011704 VEGA | MGI Sequence Detail 2122 Not Applicable  
polypeptide OTTMUSP00000005426 VEGA | MGI Sequence Detail 334 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    64 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000010263 malate dehydrogenase, cytoplasmic
  • EC
  • InterPro Domains
    IPR015955 Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal
    IPR022383 Lactate/malate dehydrogenase, C-terminal
    IPR001236 Lactate/malate dehydrogenase, N-terminal
    IPR001557 L-lactate/malate dehydrogenase
    IPR001252 Malate dehydrogenase, active site
    IPR011274 Malate dehydrogenase, NAD-dependent, cytosolic
    IPR010945 Malate dehydrogenase, type 2
    IPR016040 NAD(P)-binding domain
Molecular
Reagents
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  • All nucleic 27
    Genomic 4
    cDNA 21
    Primer pair 2

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-12354, MGD-MRK-12356, MGI:1337125, MGI:2443968
References
more
  • Summaries
    All 49
    Developmental Gene Expression 3
    Gene Ontology 8
    Phenotypes 12
  • Earliest
    J:5187 Shows TB, et al., Mitochondrial malate dehydrogenase and malic enzyme: Mendelian inherited electrophoretic variants in the mouse. Biochem Genet. 1970 Dec;4(6):707-18
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory