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Runx1t1 Gene Detail
Summary
  • Symbol
    Runx1t1
  • Name
    RUNX1 translocation partner 1
  • Synonyms
    Cbfa2t1h, ETO, MTG8
  • Feature Type
    protein coding gene
  • IDs
    MGI:104793
    NCBI Gene: 12395
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:13743436-13893649 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 5.88 cM, cytoband A
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3836 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_104793
 protein coding gene Chr4:13742628-13895056 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028065
 protein coding gene Chr4:10500326-10658783 (+)
A/J MGP_AJ_G0028023
 protein coding gene Chr4:10313315-10465684 (+)
AKR/J MGP_AKRJ_G0027988
 protein coding gene Chr4:10436252-10588821 (+)
BALB/cJ MGP_BALBcJ_G0028034
 protein coding gene Chr4:10212478-10362884 (+)
C3H/HeJ MGP_C3HHeJ_G0027764
 protein coding gene Chr4:10602325-10752267 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028478
 protein coding gene Chr4:10970957-11137072 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025819
 protein coding gene Chr4:9656216-9804900 (+)
CAST/EiJ MGP_CASTEiJ_G0027219
 protein coding gene Chr4:10398765-10563694 (+)
CBA/J MGP_CBAJ_G0027737
 protein coding gene Chr4:11210172-11374235 (+)
DBA/2J MGP_DBA2J_G0027880
 protein coding gene Chr4:10133282-10284099 (+)
FVB/NJ MGP_FVBNJ_G0027846
 protein coding gene Chr4:9926050-10079212 (+)
LP/J MGP_LPJ_G0027989
 protein coding gene Chr4:10610504-10763172 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027879
 protein coding gene Chr4:11545081-11716920 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028537
 protein coding gene Chr4:10430720-10584651 (+)
PWK/PhJ MGP_PWKPhJ_G0026939
 protein coding gene Chr4:10144453-10297210 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026768
 protein coding gene Chr4:10365158-10521608 (+)
WSB/EiJ MGP_WSBEiJ_G0027297
 protein coding gene Chr4:10495172-10651332 (+)



Homology
more
  • Human Ortholog
    RUNX1T1, RUNX1 partner transcriptional co-repressor 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RUNX1T1, RUNX1 partner transcriptional co-repressor 1
  • Synonyms
    AML1-MTG8, AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2
  • Links
    NCBI Gene ID: 862
    neXtProt AC: NX_Q06455
    UniProt: Q06455

  • Chr Location
    8q21.3; chr8:91954967-92103385 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    13 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 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
    25
  • GO References
    8
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
    977
  • Tissues
    206
  • cDNA Data
    17
  • Literature Summary
    21
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006586 Ensembl Gene Model | MGI Sequence Detail 150214 C57BL/6J ±  kb
    transcript ENSMUST00000098257 Ensembl | MGI Sequence Detail 2332 Not Applicable  
    polypeptide ENSMUSP00000095857 Ensembl | MGI Sequence Detail 604 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 26
      Genomic 2
      cDNA 18
      Primer pair 4
      Other 2

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-28085
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 21
      Gene Ontology 8
      Phenotypes 13
    • 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:351291 Murray JE, et al., The transcriptional co-repressor Runx1t1 is essential for MYCN-driven neuroblastoma tumorigenesis. Nat Commun. 2024 Jul 11;15(1):5585
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory