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Mthfr
Gene Detail
 Symbol
Name
ID
Mthfr
5,10-methylenetetrahydrofolate reductase
MGI:106639
Feature Type protein coding gene
Genetic Map
Chromosome 4
78.67 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr4:148039077-148059551 bp, + strand
From VEGA annotation of GRCm38

  20475 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4349  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: methylenetetrahydrofolate reductase
Gene Tree: Mthfr

Human
homologs
Human Homolog MTHFR, methylenetetrahydrofolate reductase (NAD(P)H)
NCBI Gene ID 4524
neXtProt AC  NX_P42898
Human Chr (Location)  1p36.3; chr1:11785730-11806103 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human MTHFR
Alleles
and
phenotypes
All alleles(32) : Targeted(7) Gene trapped(25)
 
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.
 
Human Diseases Modeled Using Mouse Mthfr (2)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process homocysteine metabolic process, metabolic process, ...
Component cytosol, neuron projection
Function catalytic activity, flavin adenine dinucleotide binding, ...
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (127)    Tissues (123)    Images (21)
Theiler Stages: 19, 22, 23, 28
Assay TypeResults
RNA in situ 123
RT-PCR 4
cDNA source data(84)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(86) Genomic(1) cDNA(84) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000010193 (Evidence)
Ensembl Gene ModelENSMUSG00000029009 (Evidence)
Entrez Gene17769 (Evidence)
UniGene89959
DFCITC1583513, TC1602875, TC1615932, TC1645521, TC1648035, TC1650538
DoTSDT.101256975, DT.101329533, DT.103544678, DT.489094, DT.97351732, DT.97371247
NIA Mouse Gene IndexU005082, U047748
EC1.5.1.20
Consensus CDS ProjectCCDS18929.1, CCDS51376.1
International Mouse Knockout Project StatusMthfr
Sequences
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 sequences
All sequences(121) RefSeq(34) UniProt(13)
Polymorphisms RFLP(1) : SNPs within 2kb(200 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004621 Eukaryotic-type methylenetetrahydrofolate reductase
InterPro IPR003171 Methylenetetrahydrofolate reductase
Protein Ontology PR:000010725 methylenetetrahydrofolate reductase
References (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:205587 Wlodarczyk BJ, et al., Mthfr gene ablation enhances susceptibility to arsenic prenatal toxicity. Toxicol Appl Pharmacol. 2014 Feb 15;275(1):22-7
All references(77)
Other
accession IDs
MGD-MRK-35096, MGI:2140237

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory