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Mthfr Gene Detail
Summary
  • Symbol
    Mthfr
  • Name
    5,10-methylenetetrahydrofolate reductase
  • Feature Type
    protein coding gene
  • IDs
    MGI:106639
    NCBI Gene: 17769
Location & Maps
more
  • Sequence Map
    Chr4:148039077-148059551 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      20475 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 78.67 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    MTHFR, methylenetetrahydrofolate reductase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MTHFR, methylenetetrahydrofolate reductase
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 4524
    neXtProt AC: NX_P42898

  • Chr Location
    1p36.3; chr1:11785730-11806103 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Mthfr mouse models; 4 with human MTHFR associations

Human Disease Mouse Models
       Neural Tube Defects, Folate-Sensitive; NTDFS   OMIM: 601634 View 1 model
       Homocysteinemia   OMIM: 603174 View 2 models
       Homocystinuria Due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase Activity   OMIM: 236250
Schizophrenia; SCZD   OMIM: 181500
Thrombophilia Due to Thrombin Defect; THPH1   OMIM: 188050
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 1 allele in 3 genetic backgrounds
    41 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
    34
  • Chemically induced (other)
    1
  • Gene trapped
    25
  • Targeted
    8
  • Genomic Mutations
    2 involving Mthfr
  • Incidental Mutations
Mice homozygous for disruptions in this gene have elevated plasma levels of homocysteine. They also display delayed growth and development and a reduced survival rate.
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 OTTMUSG00000010193 VEGA Gene Model | MGI Sequence Detail 20475 C57BL/6J ±  kb
transcript OTTMUST00000023686 VEGA | MGI Sequence Detail 6072 Not Applicable  
polypeptide OTTMUSP00000010828 VEGA | MGI Sequence Detail 695 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    202 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    13 Sequences
  • Protein Ontology
    PR:000010725 methylenetetrahydrofolate reductase
  • EC
  • InterPro Domains
    IPR004621 Eukaryotic-type methylenetetrahydrofolate reductase
    IPR029041 FAD-linked oxidoreductase-like
    IPR003171 Methylenetetrahydrofolate reductase
Molecular
Reagents
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  • All nucleic 86
    Genomic 1
    cDNA 84
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-35096, MGI:2140237
References
more
  • Summaries
    All 77
    Developmental Gene Expression 7
    Diseases 2
    Gene Ontology 6
    Phenotypes 41
  • Earliest
    J:36986 Marks PW, et al., Genomic organization and chromosomal location of murine Cdc42. Genomics. 1996 Nov 15;38(1):13-8
  • Latest
    J:230967 Markand S, et al., Retinal Ganglion Cell Loss and Mild Vasculopathy in Methylene Tetrahydrofolate Reductase (Mthfr)-Deficient Mice: A Model of Mild Hyperhomocysteinemia. Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2684-95

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
09/27/2016
MGI 6.05
The Jackson Laboratory