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Ophn1 Gene Detail
Summary
  • Symbol
    Ophn1
  • Name
    oligophrenin 1
  • Synonyms
    C130037N19Rik, Wtgr
  • Feature Type
    protein coding gene
  • IDs
    MGI:2151070
    NCBI Gene: 94190
  • Gene Overview
    MyGene.info: OPHN1
  • Alliance
Location & Maps
more
  • Sequence Map
    ChrX:98554277-98891025 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      336749 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 42.94 cM, cytoband C2
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    OPHN1, oligophrenin 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    OPHN1, oligophrenin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARHGAP41, MRX60, OPN1
  • Links
    NCBI Gene ID: 4983
    neXtProt AC: NX_O60890
    UniProt: O60890

  • Chr Location
    Xq12; chrX:68042344-68433841 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ophn1 mouse models; 1 with human OPHN1 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
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  • Phenotype Summary
    26 phenotypes from 3 alleles in 4 genetic backgrounds
    16 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 and hemizygous mice exhibit strain background-dependent premature death, dilated brain ventricles, impaired sperm motility, and abnormal behavior including decreased anxiety and increased activity. Heterozygotes have a wavy coat and vibrissae,are small and have decreased litter sizes.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000018075 VEGA Gene Model | MGI Sequence Detail 336749 C57BL/6J ±  kb
    transcript OTTMUST00000043616 VEGA | MGI Sequence Detail 2794 Not Applicable  
    polypeptide OTTMUSP00000019600 VEGA | MGI Sequence Detail 802 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1017 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 45
      cDNA 43
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2444328, MGI:3720807
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 7
      Phenotypes 16
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:260633 Allegra M, et al., Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability. Neurobiol Dis. 2017 Apr;100:75-86

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    07/10/2018
    MGI 6.12
    The Jackson Laboratory