Construction and Identification of a Novel Mice Model of Microphthalmia.
Transl Vis Sci Technol
; 13(7): 11, 2024 Jul 01.
Article
en En
| MEDLINE
| ID: mdl-39007834
ABSTRACT
Purpose:
Microphthalmia is a rare developmental eye disease that affects 1 in 7000 births. Currently, there is no cure for this condition. This study aimed to construct a stable mouse model of microphthalmia, thus providing a new tool for the study of the etiology of microphthalmia.Methods:
The Hedgehog signaling pathway plays a crucial role in eye development. One of the key mechanisms of the Sonic Hedgehog signaling is the strong transcriptional activation ability of GLI3, a major mediator of this pathway. This study used CRISPR/Cas9 system to construct a novel TgGli3Ki/Ki lens-specific over-expression mouse line. To identify the ocular characteristics of this line, quantitative PCR, Western blot, hematoxylin and eosin staining, immunofluorescent staining, and RNA-seq were performed on the ocular tissues of this line and normal mice.Results:
The TgGli3Ki/Ki lens-specific over-expression mouse model exhibits the ocular phenotype of microphthalmia. In the TgGli3Ki/Ki mouse, Gli3 is over-expressed in the lens, and the size of the eyeball and lens is significantly smaller than the normal one. RNA-seq analysis using the lens and the retina samples from TgGli3Ki/Ki and normal mice indicates that the phototransduction pathway is ectopically activated in the lens. Immunofluorescent staining of the lens samples confirmed this activation.Conclusions:
The TgGli3Ki/Ki mouse model consistently manifests the stereotypical microphthalmia phenotype across generations, making it an excellent tool for studying this severe eye disease. Translational Relevance This study developed a novel animal model to facilitate clinical research on microphthalmia.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Microftalmía
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Modelos Animales de Enfermedad
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Proteína Gli3 con Dedos de Zinc
Idioma:
En
Revista:
Transl Vis Sci Technol
/
Transl. vis. sci. technol
/
Translational vision science & technology
Año:
2024
Tipo del documento:
Article