Opa1
Gene Detail

Symbol Name ID

Opa1 optic atrophy 1 MGI:1921393

Synonyms

1200011N24Rik, lilr3

Feature Type

protein coding gene

Genetic Map

Chromosome 16

20.65 cM, cytoband B2
Detailed Genetic Map ± 1 cM


Mapping data(5)

Sequence Map

Chr16:29579334-29654884 bp, + strand From VEGA annotation of GRCm38   75551 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:14618  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 2 zebrafish

Gene Tree: Opa1

Human homologs

Human Homolog		OPA1, optic atrophy 1 (autosomal dominant)
NCBI Gene ID		4976
neXtProt AC		NX_O60313
Human Synonyms		largeG, MGM1, NPG, NTG
Human Chr (Location)		3q28-q29; chr3:193310933-193415600 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human OPA1

Alleles and phenotypes

All alleles(12) : Targeted(4) Gene trapped(5) Chemically induced(3)
 

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.

 
Human Diseases Modeled Using Mouse Opa1 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (29 annotations)

Process	apoptotic process, cellular senescence, ...
Component	dendrite, integral to membrane, ...
Function	GTPase activity, GTP binding, ...

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (63)    Tissues (26)   
Theiler Stages: 22, 23, 24, 25, 28

Assay Type	Results
Immunohistochemistry	63

cDNA source data(18)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(19) cDNA(18) Primer pair(1)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000031484 (Evidence)
Ensembl Gene Model	ENSMUSG00000038084 (Evidence)
Entrez Gene	74143 (Evidence)
DFCI	TC1575641, TC1588083, TC1602948, TC1613699, TC1623286, TC1636135, TC1638738
DoTS	DT.101259437, DT.532818, DT.55152334, DT.91328301, DT.94317070, DT.94366506, DT.97414679
NIA Mouse Gene Index	U043512
EC	3.6.5.5
Consensus CDS Project	CCDS28096.1, CCDS57024.1
International Mouse Knockout Project Status	Opa1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031484	VEGA Gene Model | MGI Sequence Detail	75551	C57BL/6J
transcript	OTTMUST00000081593	VEGA | MGI Sequence Detail	3153	Not Applicable
polypeptide	OTTMUSP00000043672	VEGA | MGI Sequence Detail	997	Not Applicable

All sequences(77) RefSeq(4) UniProt(5)

Polymorphisms

SNPs(400 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR022812	Dynamin
InterPro	IPR001401	Dynamin, GTPase domain
Protein Ontology	PR:000011644	dynamin-like 120 kDa protein, mitochondrial

References

(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:188075 Sanjuan Szklarz LK, et al., The antiapoptotic OPA1/Parl couple participates in mitochondrial adaptation to heat shock. Biochim Biophys Acta. 2012 Oct;1817(10):1886-93
All references(68)

Other accession IDs

MGI:2146390, MGI:2146496, MGI:3578172