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Mthfr Gene Detail
Summary
  • Symbol
    Mthfr
  • Name
    methylenetetrahydrofolate reductase
  • Feature Type
    protein coding gene
  • IDs
    MGI:106639
    NCBI Gene: 17769
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:148123534-148144008 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 78.67 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    270 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106639
 protein coding gene Chr4:148123534-148144019 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029115
 protein coding gene Chr4:151727403-151748159 (+)
A/J MGP_AJ_G0029080
 protein coding gene Chr4:145456876-145477254 (+)
AKR/J MGP_AKRJ_G0029028
 protein coding gene Chr4:149421087-149441599 (+)
BALB/cJ MGP_BALBcJ_G0029096
 protein coding gene Chr4:145968904-145989379 (+)
C3H/HeJ MGP_C3HHeJ_G0028817
 protein coding gene Chr4:149969681-149992249 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029545
 protein coding gene Chr4:157256622-157278050 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026791
 protein coding gene Chr4:137879123-137899834 (+)
CAST/EiJ MGP_CASTEiJ_G0028230
 protein coding gene Chr4:147161967-147183289 (+)
CBA/J MGP_CBAJ_G0028779
 protein coding gene Chr4:161770478-161792160 (+)
DBA/2J MGP_DBA2J_G0028927
 protein coding gene Chr4:145563390-145584815 (+)
FVB/NJ MGP_FVBNJ_G0028892
 protein coding gene Chr4:144650535-144670999 (+)
LP/J MGP_LPJ_G0029018
 protein coding gene Chr4:151676241-151699396 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028919
 protein coding gene Chr4:165147188-165172283 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029577
 protein coding gene Chr4:149896411-149916860 (+)
PWK/PhJ MGP_PWKPhJ_G0027950
 protein coding gene Chr4:141547257-141568340 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027784
 protein coding gene Chr4:144156770-144179439 (+)
WSB/EiJ MGP_WSBEiJ_G0028310
 protein coding gene Chr4:150051886-150072300 (+)



Homology
more
  • Human Ortholog
    MTHFR, methylenetetrahydrofolate reductase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTHFR, methylenetetrahydrofolate reductase
  • Links
    NCBI Gene ID: 4524
    neXtProt AC: NX_P42898
    UniProt: P42898

  • Chr Location
    1p36.22; chr1:11785723-11806455 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mthfr mouse models; 84 with human MTHFR associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
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Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 1 allele in 3 genetic backgrounds
    77 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.
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
less
  • All GO Annotations
    23
  • GO References
    7
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    881
  • Tissues
    151
  • cDNA Data
    85
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029009 Ensembl Gene Model | MGI Sequence Detail 20475 C57BL/6J ±  kb
    transcript ENSMUST00000069604 Ensembl | MGI Sequence Detail 6072 Not Applicable  
    polypeptide ENSMUSP00000069774 Ensembl | MGI Sequence Detail 695 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 89
      Genomic 1
      cDNA 85
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-35096, MGI:2140237
    References
    more
    • Summaries
      All 120
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 7
      Phenotypes 77
    • 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:351573 Sasner M, et al., In vivo validation of late-onset Alzheimer's disease genetic risk factors. Alzheimers Dement. 2024 Jul;20(7):4970-4984
    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
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory