About   Help   FAQ
Runx1t1 Gene Detail
Summary
  • Symbol
    Runx1t1
  • Name
    runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
  • Synonyms
    Cbfa2t1h, ETO, MTG8
  • Feature Type
    protein coding gene
  • IDs
    MGI:104793
    NCBI Gene: 12395
  • Gene Overview
    MyGene.info: RUNX1T1
Location & Maps
more
  • Sequence Map
    Chr4:13743436-13893649 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      150214 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 5.88 cM, cytoband A
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    RUNX1T1, RUNX1 translocation partner 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RUNX1T1, RUNX1 translocation partner 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AML1-MTG8, AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2
  • Links
    NCBI Gene ID: 862
    neXtProt AC: NX_Q06455

  • Chr Location
    8q22; chr8:91954967-92103226 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    17 phenotypes from 2 alleles in 2 genetic backgrounds
    1 phenotype from multigenic genotypes
    6 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
    11
  • Gene trapped
    7
  • Targeted
    4
  • Incidental Mutations
    APF , CvDC
Homozygous disruption of this gene results in increased perinatal lethality and surviving animals show severe growth retardation. The midgut is absent in 25% of mutant animals which could explain increased perinatal mortality. Surviving animals display thinned intestinal walls and dilated lumens.
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 OTTMUSG00000004483 VEGA Gene Model | MGI Sequence Detail 150214 C57BL/6J ±  kb
transcript OTTMUST00000010125 VEGA | MGI Sequence Detail 2332 Not Applicable  
polypeptide OTTMUSP00000004831 VEGA | MGI Sequence Detail 604 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    872 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 24
    Genomic 1
    cDNA 17
    Primer pair 4
    Other 2

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-28085
References
more
  • Summaries
    All 50
    Developmental Gene Expression 16
    Gene Ontology 7
    Phenotypes 6
  • Earliest
    J:29720 Erickson PF, et al., The ETO portion of acute myeloid leukemia t(8;21) fusion transcript encodes a highly evolutionarily conserved, putative transcription factor. Cancer Res. 1994 Apr 1;54(7):1782-6
  • Latest
    J:229306 Indjeian VB, et al., Evolving New Skeletal Traits by cis-Regulatory Changes in Bone Morphogenetic Proteins. Cell. 2016 Jan 14;164(1-2):45-56

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
06/22/2016
MGI 6.04
The Jackson Laboratory