huOPA1 Mouse
Product Name
huOPA1 Mouse
Product ID
C002002
Strain Name
C57BL/6JCya-Opa1tm2(hOPA1)/Cya
Backgroud
C57BL/6JCya
Status
When using this mouse strain in a publication, please cite “huOPA1 Mouse (Catalog C002002) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Gene Name
OPA1
Gene Alias
NPG, NTG, MGM1, BERHS, largeG, MTDPS14
NCBI ID
Chromosome
Chr 3 (Human)
MGI ID
Datasheet
Strain Description
The OPA1 gene (Mitochondrial Dynamin Like GTPase) is a nuclear-encoded gene that is ubiquitously expressed in human tissues, with particularly high levels in the retina (specifically retinal ganglion cells), brain, heart, and skeletal muscle. It encodes a large dynamin-related GTPase protein that exists as eight distinct isoforms due to alternative splicing; these are further processed into membrane-anchored long forms (L-OPA1) and soluble short forms (S-OPA1) [1]. This protein localizes to the inner mitochondrial membrane and the intermembrane space, where it plays a critical functional role in mediating mitochondrial fusion, maintaining the structural integrity of cristae, and regulating cytochrome c sequestration to prevent apoptosis [2]. Mutations in OPA1 are primarily associated with Autosomal Dominant Optic Atrophy (ADOA), the most common form of hereditary optic neuropathy characterized by the progressive degeneration of retinal ganglion cells and blindness, as well as more severe "ADOA-plus" syndromes and Behr syndrome, which include multisystemic symptoms such as sensorineural deafness, ataxia, peripheral neuropathy, and chronic progressive external ophthalmoplegia (CPEO) [3-4].
The huOPA1 mouse model was generated by replacing the sequence from upstream of exon 1 to downstream of 3’UTR of mouse Opa1 with the sequence from upstream of exon 1 to downstream of 3’UTR of human OPA1. This model is suitable for the study of Autosomal Dominant Optic Atrophy (ADOA), as well as for the development of OPA1-targeted therapies.
Reference
Lee H, Lee TJ, Galloway CA, Zhi W, Xiao W, de Mesy Bentley KL, Sharma A, Teng Y, Sesaki H, Yoon Y. The mitochondrial fusion protein OPA1 is dispensable in the liver and its absence induces mitohormesis to protect liver from drug-induced injury. Nat Commun. 2023 Oct 23;14(1):6721.
Zhang D, Zhang Y, Ma J, Zhu C, Niu T, Chen W, Pang X, Zhai Y, Sun F. Cryo-EM structures of S-OPA1 reveal its interactions with membrane and changes upon nucleotide binding. Elife. 2020 Mar 31;9:e50294.
Yao SQ, Liang JJ, Zhou H, Tan S, Cao Y, Chen CB, Xu C, Wang R, Li TP, Zhao FF, Wang Y, He HJ, Zhang D, Wang M, Liu L, Yu-Wai-Man P, Wei S, Cen LP. Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy. Cell Death Discov. 2025 May 30;11(1):259.
Jagadish S, Calhoun ARUL, Ganganna ST. Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene. Epilepsy Behav Rep. 2024 Feb 6;25:100652.
Strain Strategy
The sequence from upstream of exon 1 to downstream of 3’UTR of mouse Opa1 was replaced with the sequence from upstream of exon 1 to downstream of 3’UTR of human OPA1. The human EEF1A1P23 and OPA1-AS1 were expressed in human genomic DNA.
Figure 1. Diagram of the gene editing strategy for the generation of huOPA1 mice.
Application Area
Screening, development, and evaluation of OPA1-targeted drugs;
Research on the pathological mechanism and treatment methods of autosomal dominant optic atrophy (ADOA).
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