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Opa1 Gene Detail
Summary
  • Symbol
    Opa1
  • Name
    OPA1, mitochondrial dynamin like GTPase
  • Synonyms
    1200011N24Rik, lilr3, optic atrophy 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921393
    NCBI Gene: 74143
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr16:29398152-29473702 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 16, 20.65 cM, cytoband B2
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2234 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921393
 protein coding gene Chr16:29398099-29481924 (+)
129S1/SvImJ MGP_129S1SvImJ_G0022706
 protein coding gene Chr16:27417885-27494324 (+)
A/J MGP_AJ_G0022669
 protein coding gene Chr16:26158748-26233579 (+)
AKR/J MGP_AKRJ_G0022643
 protein coding gene Chr16:27152603-27226687 (+)
BALB/cJ MGP_BALBcJ_G0022673
 protein coding gene Chr16:26346198-26420030 (+)
C3H/HeJ MGP_C3HHeJ_G0022438
 protein coding gene Chr16:27262918-27336697 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023122
 protein coding gene Chr16:28000580-28082670 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020640
 protein coding gene Chr16:26609764-26683800 (+)
CAST/EiJ MGP_CASTEiJ_G0021966
 protein coding gene Chr16:27326753-27402901 (+)
CBA/J MGP_CBAJ_G0022408
 protein coding gene Chr16:29198547-29276587 (+)
DBA/2J MGP_DBA2J_G0022541
 protein coding gene Chr16:26048485-26122529 (+)
FVB/NJ MGP_FVBNJ_G0022516
 protein coding gene Chr16:26016973-26092997 (+)
LP/J MGP_LPJ_G0022608
 protein coding gene Chr16:27229085-27306702 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022535
 protein coding gene Chr16:28766425-28843633 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023134
 protein coding gene Chr16:27109998-27186087 (+)
PWK/PhJ MGP_PWKPhJ_G0021705
 protein coding gene Chr16:26333052-26409223 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021536
 protein coding gene Chr16:26860917-26939112 (+)
WSB/EiJ MGP_WSBEiJ_G0022010
 protein coding gene Chr16:27038314-27113477 (+)



Homology
more
  • Human Ortholog
    OPA1, OPA1 mitochondrial dynamin like GTPase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    OPA1, OPA1 mitochondrial dynamin like GTPase
  • Synonyms
    BERHS, largeG, MGM1, MTDPS14, NPG, NTG
  • Links
    NCBI Gene ID: 4976
    neXtProt AC: NX_O60313
    UniProt: O60313

  • Chr Location
    3q29; chr3:193593144-193697811 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Opa1 mouse models; 5 with human OPA1 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    87 phenotypes from 9 alleles in 11 genetic backgrounds
    1 images
    64 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.
Mice homozygous for an ENU mutation exhibit embryonic lethality, embryonic growth retardation and morphological abnormalities. Mice heterozygous for an ENU mutation exhibit abnormal cellular morphology, altered optic nerve myelination, abnormal response to a new environment and decreased vision.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    100
  • GO References
    27
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
    788
  • Tissues
    36
  • cDNA Data
    19
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038084 Ensembl Gene Model | MGI Sequence Detail 75551 C57BL/6J ±  kb
    transcript ENSMUST00000161186 Ensembl | MGI Sequence Detail 3153 Not Applicable  
    polypeptide ENSMUSP00000123880 Ensembl | MGI Sequence Detail 997 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 19
      Primer pair 2
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2146390, MGI:2146496, MGI:3578172
    References
    more
    • Summaries
      All 164
      Developmental Gene Expression 18
      Diseases 4
      Gene Ontology 27
      Phenotypes 64
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:357404 Affortit C, et al., The human OPA1(delTTAG) mutation induces adult onset and progressive auditory neuropathy in mice. Cell Mol Life Sci. 2024 Feb 9;81(1):80
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory