Mdh1 MGI Mouse Gene Detail - MGI:97051 - malate dehydrogenase 1, NAD (soluble)

Symbol

Mdh1
Name

malate dehydrogenase 1, NAD (soluble)
Synonyms

B230377B03Rik, MDH-s, Mor-2, Mor2

Feature Type

protein coding gene
IDs

MGI:97051
NCBI Gene: 17449
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr11:21506692-21521934 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 13.89 cM
Mapping Data

10 experiments

SNPs within 2kb

450 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97051	protein coding gene	Chr11:21506692-21522367 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0018073	protein coding gene	Chr11:19190109-19205716 (-)
A/J	MGP_AJ_G0018046	protein coding gene	Chr11:18482708-18498295 (-)
AKR/J	MGP_AKRJ_G0018010	protein coding gene	Chr11:19149402-19165421 (-)
BALB/cJ	MGP_BALBcJ_G0018014	protein coding gene	Chr11:18617159-18633328 (-)
C3H/HeJ	MGP_C3HHeJ_G0017828	protein coding gene	Chr11:19015985-19031564 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0018466	protein coding gene	Chr11:20032706-20048357 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016124	protein coding gene	Chr11:17429176-17444559 (-)
CAST/EiJ	MGP_CASTEiJ_G0017389	protein coding gene	Chr11:19025074-19040554 (-)
CBA/J	MGP_CBAJ_G0017802	protein coding gene	Chr11:20892206-20907850 (-)
DBA/2J	MGP_DBA2J_G0017912	protein coding gene	Chr11:18430385-18445955 (-)
FVB/NJ	MGP_FVBNJ_G0017904	protein coding gene	Chr11:18192345-18209435 (-)
LP/J	MGP_LPJ_G0017983	protein coding gene	Chr11:19343800-19362226 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017930	protein coding gene	Chr11:21321399-21341395 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018507	protein coding gene	Chr11:19245392-19260949 (-)
PWK/PhJ	MGP_PWKPhJ_G0017170	protein coding gene	Chr11:18457146-18473075 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016967	protein coding gene	Chr11:18971025-18992467 (-)
WSB/EiJ	MGP_WSBEiJ_G0017443	protein coding gene	Chr11:18875576-18891077 (-)

Human Ortholog

MDH1, malate dehydrogenase 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MDH1, malate dehydrogenase 1
Synonyms

DEE88, EIEE88, HEL-S-32, KAR, MDHA, MDH-s, MGC:1375, MOR2
Links

HGNC:6970

NCBI Gene ID: 4190

neXtProt AC: NX_P40925

UniProt: P40925
Chr Location

2p15; chr2:63588609-63607197 (+) GRCh38

MGI Vertebrate Homology

Mdh1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: MDH1
Protein SuperFamily

Lac_mal_DH
Gene Tree

Mdh1

Diseases

1 with human MDH1 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 88 IDs developmental and epileptic encephalopathy 88 DOID:0112222 OMIM:618959

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

7 phenotypes from 2 alleles in 2 genetic backgrounds
18 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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

29
Chemically and radiation induced

3
Chemically induced (ENU)

7
Chemically induced (other)

2
Endonuclease-mediated

6
Gene trapped

3
Radiation induced

1
Targeted

7
Genomic Mutations

1 involving Mdh1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

41 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

An ENU-induced mutation results in prenatal lethality in homozygotes and decreased enzyme activity in heterozygotes.

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All GO Annotations

31
GO References

14

Molecular Function

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

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	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	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

950
Tissues

148
cDNA Data

20
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mdh1

ZFIN mdh1aa, mdh1ab

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All Sequences

57
RefSeq

4
UniProt

3
CCDS

CCDS24466.1, CCDS88135.1

Ensembl

ENSMUSG00000020321 (Evidence)
NCBI Gene

17449

			Length	Strain/Species	Flank
genomic	17449	NCBI Gene Model \| MGI Sequence Detail	15243	C57BL/6J	± kb
transcript	NM_001316675	RefSeq \| MGI Sequence Detail	1958	ZRU/MplStud
polypeptide	P14152	UniProt \| EBI \| MGI Sequence Detail	334	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000010263 malate dehydrogenase, cytoplasmic

(term hierarchy)
EC

1.1.1.37, 1.1.1.96
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

IPR036291 NAD(P)-binding domain superfamily
GlyGen

P14152 5 sites, 4 N-linked glycans (4 sites), 1 O-linked glycan (1 site)

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All nucleic 30

Genomic 4

cDNA 22

Primer pair 4

Microarray probesets 6

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MGD-MRK-12354, MGD-MRK-12356, MGI:1337125, MGI:2443968

Summaries

All 67

Developmental Gene Expression 6

Gene Ontology 14

Phenotypes 18
Earliest

J:338802 Baker WW, et al., Subunit structure and gene control of mouse NADP-malate dehydrogenase. Biochem Genet. 1969 Jan;2(4):351-60
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Mdh1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr107079	Chr11:21522193-21522211 (-)	-268 bp
Tssr107078	Chr11:21522037-21522049 (-)	-109 bp
Tssr107077	Chr11:21521798-21521827 (-)	121 bp
Tssr107076	Chr11:21521786-21521797 (-)	142 bp
Tssr107075	Chr11:21521774-21521780 (-)	157 bp
Tssr107074	Chr11:21519968-21519971 (-)	1,964 bp
Tssr107073	Chr11:21519097-21519100 (-)	2,835 bp
Tssr107071	Chr11:21507280-21507307 (-)	14,640 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 10/29/2024 MGI 6.24