ArticleScientific reports2017
Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities-an analysis of CRISPR genome-edited mouse embryos.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Long-term retinal protection by MEK inhibition in Pax6 haploinsufficiency mice.Experimental eye research · 2022Article
- The Eyes Absent proteins in development and in developmental disorders.Biochemical Society transactions · 2021Review
- Gene dosage manipulation alleviates manifestations of hereditaryScience translational medicine · 2020Article
- Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.International journal of molecular sciences · 2020Review
- Article
- Improvements in Gene Editing Technology Boost Its Applications in Livestock.Frontiers in genetics · 2020Review
- The Ocular Neural Crest: Specification, Migration, and Then What?Frontiers in cell and developmental biology · 2020Review
- New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Human genetics · 2019Article
- Retroelement Insertion in a CRISPR/Cas9 Editing Site in the Early Embryo Intensifies Genetic Mosaicism.Frontiers in cell and developmental biology · 2019Article
- CRISPR GENOME SURGERY IN THE RETINA IN LIGHT OF OFF-TARGETING.Retina (Philadelphia, Pa.) · 2018Review
- TIE: A Method to Electroporate Long DNA Templates into Preimplantation Embryos for CRISPR-Cas9 Gene Editing.The CRISPR journal · 2018Article
- The Birth of the Eye Vesicle: When Fate Decision Equals Morphogenesis.Frontiers in neuroscience · 2018Review
- Parental Mosaicism inFrontiers in genetics · 2018Article
- CRISPR-Cas Genome Surgery in Ophthalmology.Translational vision science & technology · 2017Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clustered regularly interspaced short palindromic repeat (CRISPR)/CRISPR-associated protein (Cas) system is a rapid gene-targeting technology that does not require embryonic stem cells. To demonstrate dosage effects of the Pax6 gene on eye formation, we generated Pax6-deficient mice with the CRISPR/Cas system. Eyes of founder embryos at embryonic day (E) 16.5 were examined and categorized according to macroscopic phenotype as class 1 (small eye with distinct pigmentation), class 2 (pigmentation without eye globes), or class 3 (no pigmentation and no eyes). Histologically, class 1 eyes were abnormally small in size with lens still attached to the cornea at E16.5. Class 2 eyes had no lens and distorted convoluted retinas. Class 3 eyes had only rudimentary optic vesicle-like tissues or histological anophthalmia. Genotyping of neck tissue cells from the founder embryos revealed somatic mosaicism and allelic complexity for Pax6. Relationships between eye phenotype and genotype were developed. The present results demonstrated that development of the lens from the surface ectoderm requires a higher gene dose of Pax6 than development of the retina from the optic vesicle. We further anticipate that mice with somatic mosaicism in a targeted gene generated by CRISPR/Cas-mediated genome editing will give some insights for understanding the complexity in human congenital diseases that occur in mosaic form.
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