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Otx1 Gene Detail
Summary
  • Symbol
    Otx1
  • Name
    orthodenticle homeobox 1
  • Synonyms
    A730044F23Rik, jv
  • Feature Type
    protein coding gene
  • IDs
    MGI:97450
    NCBI Gene: 18423
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:21944764-21952897 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 14.10 cM
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    184 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_97450
 protein coding gene Chr11:21944764-21954044 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018075
 protein coding gene Chr11:19638562-19646766 (-)
A/J MGP_AJ_G0018048
 protein coding gene Chr11:18907676-18915795 (-)
AKR/J MGP_AKRJ_G0018012
 protein coding gene Chr11:19593283-19601427 (-)
BALB/cJ MGP_BALBcJ_G0018016
 protein coding gene Chr11:19044712-19052816 (-)
C3H/HeJ MGP_C3HHeJ_G0017830
 protein coding gene Chr11:19472789-19480910 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018468
 protein coding gene Chr11:20503201-20512255 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016126
 protein coding gene Chr11:17862992-17871108 (-)
CAST/EiJ MGP_CASTEiJ_G0017391
 protein coding gene Chr11:19499466-19508904 (-)
CBA/J MGP_CBAJ_G0017804
 protein coding gene Chr11:21394947-21403331 (-)
DBA/2J MGP_DBA2J_G0017914
 protein coding gene Chr11:18859894-18868020 (-)
FVB/NJ MGP_FVBNJ_G0017906
 protein coding gene Chr11:18628122-18636250 (-)
LP/J MGP_LPJ_G0017985
 protein coding gene Chr11:19795897-19804013 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017932
 protein coding gene Chr11:21834552-21842654 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018509
 protein coding gene Chr11:19692146-19700269 (-)
PWK/PhJ MGP_PWKPhJ_G0017172
 protein coding gene Chr11:18887283-18895605 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016969
 protein coding gene Chr11:19442291-19450433 (-)
WSB/EiJ MGP_WSBEiJ_G0017445
 protein coding gene Chr11:19323397-19331509 (-)



Homology
more
  • Human Ortholog
    OTX1, orthodenticle homeobox 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OTX1, orthodenticle homeobox 1
  • Links
    NCBI Gene ID: 5013
    neXtProt AC: NX_P32242
    UniProt: P32242

  • Chr Location
    2p15; chr2:63049735-63057836 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 3 alleles in 4 genetic backgrounds
    74 phenotypes from multigenic genotypes
    36 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.
Inner ear abnormalities and circling/head-shaking behavior are seen in mild mutants; null mutants also have spontaneous seizures and defects in dorsal telencephalic cortex, mesencephalon, cerebellum and eye; and show delayed growth and sexual maturation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • 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
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
    1576
  • Tissues
    378
  • cDNA Data
    32
  • Literature Summary
    148
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000005917 Ensembl Gene Model | MGI Sequence Detail 8134 C57BL/6J ±  kb
    transcript ENSMUST00000006071 Ensembl | MGI Sequence Detail 2789 Not Applicable  
    polypeptide ENSMUSP00000006071 Ensembl | MGI Sequence Detail 355 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 75
      Genomic 5
      cDNA 34
      Primer pair 16
      Other 20

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11545, MGD-MRK-13086, MGI:2444751, MGI:96651
    References
    more
    • Summaries
      All 221
      Developmental Gene Expression 148
      Gene Ontology 8
      Phenotypes 36
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:335592 de Lope C, et al., Dysfunction of programmed embryo senescence is linked to genetic developmental defects. Development. 2023 May 1;150(9):dev200903
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory