About   Help   FAQ
Gamt Gene Detail
Summary
  • Symbol
    Gamt
  • Name
    guanidinoacetate methyltransferase
  • Synonyms
    Spintz1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098221
    NCBI Gene: 14431
Location & Maps
more
  • Sequence Map
    Chr10:80258151-80261012 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2862 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    GAMT, guanidinoacetate N-methyltransferase
  • Vertebrate Orthologs
    8
  • Human Ortholog
    GAMT, guanidinoacetate N-methyltransferase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CCDS2, HEL-S-20, PIG2, TP53I2
  • Links
    NCBI Gene ID: 2593
    neXtProt AC: NX_Q14353

  • Chr Location
    19p13.3; chr19:1397026-1401570 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Gamt mouse models; 1 with human GAMT associations

Human Disease Mouse Models
       Cerebral Creatine Deficiency Syndrome 2; CCDS2   OMIM: 612736 View 1 model
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
    13 phenotypes from 1 allele in 1 genetic background
    18 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
    7
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Targeted
    2
  • Genomic Mutations
    1 involving Gamt
  • Incidental Mutations
Homozygous null mice display increased postnatal lethality; reduced body weight, muscle tension, and creatine concentrations; infertility with impaired spermatogenesis.
Gene Ontology
(GO)
Classifications
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000008 VEGA Gene Model | MGI Sequence Detail 2862 C57BL/6J ±  kb
transcript OTTMUST00000045772 VEGA | MGI Sequence Detail 979 Not Applicable  
polypeptide OTTMUSP00000020612 VEGA | MGI Sequence Detail 252 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    3 from dbSNP Build 142
  • PCR
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000007835 guanidinoacetate N-methyltransferase
  • EC
  • InterPro Domains
    IPR026480 Arginine N-methyltransferase 2-like domain
    IPR016550 Guanidinoacetate N-methyltransferase
    IPR029063 S-adenosyl-L-methionine-dependent methyltransferase
Molecular
Reagents
less
  • All nucleic 73
    Genomic 1
    cDNA 70
    Primer pair 2

    Microarray probesets 3
Other
Accession IDs
less
MGI:2143491
References
more
  • Summaries
    All 42
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 5
    Phenotypes 18
  • Earliest
    J:43806 Lee H, et al., Guanidinoacetate methyltransferase in the mouse: extensive expression in Sertoli cells of testis and in microvilli of caput epididymis. Biol Reprod. 1994 Jan;50(1):152-62
  • Latest
    J:213257 Lygate CA, et al., Living without creatine: unchanged exercise capacity and response to chronic myocardial infarction in creatine-deficient mice. Circ Res. 2013 Mar 15;112(6):945-55

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/27/2016
MGI 6.05
The Jackson Laboratory