A C1976Y missense mutation in the mouse Ip3r1 gene leads to short-term mydriasis and unfolded protein response in the iris constrictor muscles

Ip3r1 encodes an inositol 1,4,5-trisphosphate-responsive calcium channel. Mutations in the IP3R1 gene in humans may cause Gillespie syndrome (GS) typically presents as fixed dilated pupils in affected infants, which was referred to as iris hypoplasia. However, there is no report of mice with Ip3r1 h...

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Detalles Bibliográficos
Autores principales: Chen, Bing, Qi, Chong-Yang, Chen, Li, Dai, Meng-Jun, Miao, Ya-You, Chen, Rui, Wei, Wan-E, Yang, Shun, Wang, Hong-Ling, Duan, Xiao-Ge, Gong, Min-Wei, Wang, Yi, Xue, Zheng-Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Japanese Association for Laboratory Animal Science 2019
Materias:
Original
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004804/
https://www.ncbi.nlm.nih.gov/pubmed/31391379
http://dx.doi.org/10.1538/expanim.19-0007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004804/
https://www.ncbi.nlm.nih.gov/pubmed/31391379
http://dx.doi.org/10.1538/expanim.19-0007

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