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Citations
IMMUNITY 47:107 (2017) IF=22.845
Rpe65-KO Mice
Product Number：C001387
Genetic Background：C57BL/6J
Reproduction：Homozygote x Homozygote
Strain Description
Leber's congenital amaurosis (LCA) is a group of inherited retinal diseases with severe visual impairment. The main symptoms of LCA are loss of visual acuity, nystagmus, and decreased or absent light reflexes in the optic rods and cones at birth or several months after birth. Approximately 16% of LCA is caused by mutations in the RPE65 gene. In the visual cells vitamin A aldehyde (retinal) and opsins form the retinoid, and vitamin A aldehyde absorbs light and isomerizes to all-trans-retinal, causing a change in retinal conformation and initiating the neural impulses to the brain that lead to vision. During the breakdown and resynthesis of the retinal, a portion of vitamin A aldehyde is consumed and is mainly replenished by vitamin A (retinol) in the blood. The retinoid isomerase encoded by the RPE65 gene is present in the retinal pigment epithelium (RPE) of the retina, and the RPE65 protein plays a key role in the visual process by participating in the conversion of vitamin A to vitamin A aldehyde and the re-production-of-retinal-photoreceptor pigments, and is, therefore, a key molecule in the conversion and transmission of light signals by the retina[1]. Mutations in the RPE65 gene can lead to further degeneration of the neural retina and RPE cells, resulting in irreversible blindness. Mutations in multiple alleles of RPE65 have been found to destroy optic nerve cells and lead to type II Leber's congenital amaurosis (LCA2) and early onset severe retinal dystrophy (EOSRD), ultimately leading to complete blindness[1-3].
This product is a mouse Rpe65 knockout model that uses gene editing technology to knock out the homolog of the human RPE65 gene in mice. The deletion of Rpe65 gene expression in mice resulted in disruption of RPE cell function, apoptosis of photoreceptor cells, disorganization of the outer segmental discs of optic rods, and quenching of optic rod waveforms, causing severe retinal degeneration.
The mouse Rpe65 gene is located on chromosome 3, and exon 2-5 of this gene was knocked out using gene editing techniques.
● Retinal Degeneration (RD) Research;
● Leber Congenital Amaurosis 2 (LCA2) Research;
● Other Retinal Disease Research.
1.Electroretinogram (ERG) testing
Figure 1. Electroretinogram (ERG) results of Rpe65-KO mice and wild-type mice (C57BL/6J). Compared with wild-type mice, the amplitudes of both a- and b-waves in the scotopic and photopic ERGs of Rpe65-KO mice were significantly reduced, almost reaching the level of no amplitude, and the ERGs showed a waveform extinction.
2.Optical coherence tomography (OCT) of the retina
Figure 2. Optical coherence tomography (OCT) results of Rpe65-KO mice and wild-type mice (C57BL/6J). Compared with wild-type mice, Rpe65-KO mice showed apoptosis of photoreceptor cells and disorganization of the outer segmental membrane discs of optic rod cells.
Retinal pathological evaluation of Rpe65-KO mice and wild-type mice by electroretinography (ERG) and optical coherence tomography (OCT) showed that the Rpe65-KO mice exhibited disrupted RPE cell function, apoptosis of photoreceptor cells, disorganization of the outer segmental discs of the optic rods and quenching of the optic rod waveform compared to wild-type mice and overall presented with severe retinal degeneration.
In conclusion, The Rpe65-KO mice are a severe type of retinal degeneration model that can be used in subsequent studies of retinitis pigmentosa (RP) and other retinal diseases, providing a useful tool for the study of human diseases.
References
[1] Chao DL, Burr A, Pennesi M. RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy. 2019 Nov 14. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.
[2] Pang JJ, Chang B, Hawes NL, Hurd RE, Davisson MT, Li J, Noorwez SM, Malhotra R, McDowell JH, Kaushal S, Hauswirth WW, Nusinowitz S, Thompson DA, Heckenlively JR. Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis. 2005 Feb 28;11:152-62.
[3] Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809.
