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; chr1:11845787-11866160 (-)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human MTHFR

Alleles and phenotypes

All alleles(30) : Targeted(5) 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 Type	Results
RNA in situ	123
RT-PCR	4

cDNA source data(85)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(87) Genomic(1) cDNA(85) Primer pair(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000010193 (Evidence)
Ensembl Gene Model	ENSMUSG00000029009 (Evidence)
Entrez Gene	17769 (Evidence)
UniGene	89959
DFCI	TC1583513, TC1602875, TC1615932, TC1645521, TC1648035, TC1650538
DoTS	DT.101256975, DT.101329533, DT.103544678, DT.489094, DT.97351732, DT.97371247
NIA Mouse Gene Index	U005082, U047748
EC	1.5.1.20
Consensus CDS Project	CCDS18929.1, CCDS51376.1
International Mouse Knockout Project Status	Mthfr

Sequences

Length	Strain/Species
genomic	OTTMUSG00000010193	VEGA Gene Model | MGI Sequence Detail	20475	C57BL/6J
transcript	OTTMUST00000023686	VEGA | MGI Sequence Detail	6072	Not Applicable
polypeptide	OTTMUSP00000010828	VEGA | MGI Sequence Detail	695	Not Applicable

All sequences(92) RefSeq(5) UniProt(13)

Polymorphisms

RFLP(1) : SNPs(117 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:184660 Kvajo M, et al., Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. Neuroscience. 2012 Jun 1;211:136-64
All references(72)

Other accession IDs

MGD-MRK-35096, MGI:2140237