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Gamt Gene Detail
Summary
  • Symbol
    Gamt
  • Name
    guanidinoacetate methyltransferase
  • Synonyms
    Spintz1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098221
    NCBI Gene: 14431
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:80093985-80096846 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1098221
 protein coding gene Chr10:80093985-80096846 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017491
 protein coding gene Chr10:80855451-80858312 (-)
A/J MGP_AJ_G0017469
 protein coding gene Chr10:78022236-78025097 (-)
AKR/J MGP_AKRJ_G0017430
 protein coding gene Chr10:80153691-80156552 (-)
BALB/cJ MGP_BALBcJ_G0017431
 protein coding gene Chr10:78253558-78256419 (-)
C3H/HeJ MGP_C3HHeJ_G0017254
 protein coding gene Chr10:80250171-80253032 (-)
C57BL/6NJ MGP_C57BL6NJ_G0017885
 protein coding gene Chr10:83644271-83647132 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015573
 protein coding gene Chr10:74245167-74247928 (-)
CAST/EiJ MGP_CASTEiJ_G0016821
 protein coding gene Chr10:80455009-80457837 (-)
CBA/J MGP_CBAJ_G0017226
 protein coding gene Chr10:86885110-86887971 (-)
DBA/2J MGP_DBA2J_G0017332
 protein coding gene Chr10:77243160-77246021 (-)
FVB/NJ MGP_FVBNJ_G0017326
 protein coding gene Chr10:76428285-76431146 (-)
LP/J MGP_LPJ_G0017403
 protein coding gene Chr10:81328132-81330993 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017352
 protein coding gene Chr10:88829046-88831907 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0017926
 protein coding gene Chr10:80139999-80142860 (-)
PWK/PhJ MGP_PWKPhJ_G0016602
 protein coding gene Chr10:77110689-77113513 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016391
 protein coding gene Chr10:79120903-79123735 (-)
WSB/EiJ MGP_WSBEiJ_G0016881
 protein coding gene Chr10:80176116-80178977 (-)



Homology
more
  • Human Ortholog
    GAMT, guanidinoacetate N-methyltransferase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GAMT, guanidinoacetate N-methyltransferase
  • Synonyms
    CCDS2, HEL-S-20, PIG2, TP53I2
  • Links
    NCBI Gene ID: 2593
    neXtProt AC: NX_Q14353
    UniProt: Q14353

  • Chr Location
    19p13.3; chr19:1397026-1401570 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gamt mouse models; 2 with human GAMT associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
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
    19 phenotypes from 2 alleles in 2 genetic backgrounds
    25 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.
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
    21
  • GO References
    9
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
non-membrane-bounded 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
    740
  • Tissues
    15
  • cDNA Data
    71
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14431 NCBI Gene Model | MGI Sequence Detail 2862 C57BL/6J ±  kb
    transcript NM_001347119 RefSeq | MGI Sequence Detail 1052 ZRU/MplStud  
    polypeptide O35969 UniProt | EBI | MGI Sequence Detail 236 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 76
      Genomic 1
      cDNA 71
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2143491
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 9
      Phenotypes 25
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:340570 Bejarano E, et al., Unbalanced redox status network as an early pathological event in congenital cataracts. Redox Biol. 2023 Oct;66:102869
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory