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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
    genome feature 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
    19
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 ENSMUSG00200036020
 protein coding gene Chr16:26414465-26488910 (+)
A/J ENSMUSG00195027330
 protein coding gene Chr16:25963735-26038184 (+)
AKR/J ENSMUSG00220030234
 protein coding gene Chr16:26250021-26324483 (+)
BALB/cJ ENSMUSG00180028429
 protein coding gene Chr16:26184793-26259233 (+)
C3H/HeJ ENSMUSG00175037516
 protein coding gene Chr16:26332726-26408275 (+)
C57BL/6NJ ENSMUSG00215014618
 protein coding gene Chr16:26202168-26277710 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020640
 protein coding gene Chr16:26609764-26683800 (+)
CAST/EiJ ENSTCUG00005032266
 protein coding gene Chr16:26597291-26671054 (+)
CBA/J ENSMUSG00210035973
 protein coding gene Chr16:26374805-26450351 (+)
DBA/2J ENSMUSG00185018945
 protein coding gene Chr16:26290208-26365755 (+)
FVB/NJ ENSMUSG00205014127
 protein coding gene Chr16:26300517-26374960 (+)
JF1/MsJ ENSUMUG00000025163
 protein coding gene Chr16:26447384-26521941 (+)
LP/J ENSMUSG00230029692
 protein coding gene Chr16:28859875-28934319 (+)
NOD/ShiLtJ ENSMUSG00190023926
 protein coding gene Chr16:26478395-26553948 (+)
NZO/HlLtJ ENSMUSG00225039202
 protein coding gene Chr16:32094855-32170383 (+)
PWK/PhJ ENSLUMG00010032606
 protein coding gene Chr16:26286154-26361115 (+)
SPRET/EiJ ENSMSPG00010017857
 protein coding gene Chr16:26272192-26340331 (+)
WSB/EiJ ENSIUOG00005032041
 protein coding gene Chr16:26435724-26511267 (+)



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, MTDPS14A, MTDPS14B, NPG, NTG
  • Links
    NCBI Gene ID: 4976
    UniProt: O60313

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

Human Disease Mouse Models
      
IDs
 View 3 models
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    95 phenotypes from 10 alleles in 12 genetic backgrounds
    1 images
    81 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. Homozygosity for the disease-associated p.V291D/p.V309D variant leads to mitochondrial abnormalities in the retinal ganglion cells, which results in progressive RGC degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    118
  • GO References
    31
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
    695
  • Tissues
    40
  • cDNA Data
    19
  • Literature Summary
    20
  • 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 24
      cDNA 19
      Primer pair 4
      Other 1
      Antibodies 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2146390, MGI:2146496, MGI:3578172
    References
    more
    • Summaries
      All 205
      Developmental Gene Expression 20
      Diseases 5
      Gene Ontology 31
      Phenotypes 81
    • 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:388241 Matsumura S, et al., OPA1 in MC4R Neurons Regulates Dietary Fat Intake and Body Weight in Mice. FASEB J. 2026 May 31;40(10):e71941
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory