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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:97597883-97934631 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 42.94 cM, cytoband C2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    6308 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2151070
 protein coding gene ChrX:97597883-97934691 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035932
 protein coding gene ChrX:94944032-95295830 (-)
A/J MGP_AJ_G0035917
 protein coding gene ChrX:95026058-95355724 (-)
AKR/J MGP_AKRJ_G0035833
 protein coding gene ChrX:97730315-98084792 (-)
BALB/cJ MGP_BALBcJ_G0035900
 protein coding gene ChrX:93809874-94139670 (-)
C3H/HeJ MGP_C3HHeJ_G0035609
 protein coding gene ChrX:95391305-95738795 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036429
 protein coding gene ChrX:97871421-98212993 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033259
 protein coding gene ChrX:92878565-93199602 (-)
CAST/EiJ MGP_CASTEiJ_G0034896
 protein coding gene ChrX:79723732-80066244 (-)
CBA/J MGP_CBAJ_G0035584
 protein coding gene ChrX:100860261-101220321 (-)
DBA/2J MGP_DBA2J_G0035738
 protein coding gene ChrX:94282548-94608676 (-)
FVB/NJ MGP_FVBNJ_G0035676
 protein coding gene ChrX:93670972-94007663 (-)
LP/J MGP_LPJ_G0035828
 protein coding gene ChrX:95945500-96289768 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035711
 protein coding gene ChrX:105343535-105721106 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036456
 protein coding gene ChrX:94698979-95025262 (-)
PWK/PhJ MGP_PWKPhJ_G0034595
 protein coding gene ChrX:77405581-77714799 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034423
 protein coding gene ChrX:80573325-80907746 (-)
WSB/EiJ MGP_WSBEiJ_G0035035
 protein coding gene ChrX:93405786-93753587 (-)



Homology
more
  • Human Ortholog
    OPHN1, oligophrenin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OPHN1, oligophrenin 1
  • Synonyms
    ARHGAP41, MRX60, MRXSBL, OPN1
  • Links
    NCBI Gene ID: 4983
    neXtProt AC: NX_O60890
    UniProt: O60890

  • Chr Location
    Xq12; chrX:67949349-68433913 (-)  GRCh38
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
less
  • Phenotype Summary
    26 phenotypes from 3 alleles in 5 genetic backgrounds
    22 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
less
  • All GO Annotations
    58
  • 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
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
    798
  • Tissues
    61
  • cDNA Data
    41
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031214 Ensembl Gene Model | MGI Sequence Detail 336749 C57BL/6J ±  kb
    transcript ENSMUST00000033560 Ensembl | MGI Sequence Detail 7170 Not Applicable  
    polypeptide ENSMUSP00000033560 Ensembl | MGI Sequence Detail 802 Not Applicable  
    For the selected sequence
    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 55
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 9
      Phenotypes 22
    • 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:324818 Cresto N, et al., Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophrenin-1. Cells. 2022 May 5;11(9)
    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)
    Citing These Resources
    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