Mutation in Nrg1 Causes Dilated Pupils in Mice
Author Information
Author(s): Chen Bing, Li Ke, Zhang Fenli, Zhai Guoqin, Gong Wen, Qiang Sujing, Xue Zhengfeng
Primary Institution: Comparative Medicine Center, Yangzhou University
Hypothesis
The study investigates the effects of an ENU-induced mutation in the Nrg1 gene on pupil dilation and muscarinic receptor levels.
Conclusion
The Nrg1 mutation is linked to dilated pupils and a reduction in muscarinic receptors in the sphincter pupillae of mice.
Supporting Evidence
- The mutation in Nrg1 affects the splicing of EGFβ-type Nrg1 mRNA.
- Pharmacological tests showed a reduction of muscarinic receptors in the sphincter pupillae of Dp1 mice.
- The dilated pupil phenotype is inherited with very low penetrance in heterozygous mice and complete penetrance in homozygous mice.
- Dp1 mice are a valuable resource for further studies on Nrg1 function.
Takeaway
Scientists found a gene mutation in mice that makes their pupils stay big and affects a type of receptor in their eyes.
Methodology
The study used ENU mutagenesis to create a mouse model with a dilated pupil phenotype and analyzed genetic and pharmacological effects.
Limitations
The study's findings may not fully translate to human conditions due to species differences.
Participant Demographics
Mice used in the study included various genetic backgrounds, primarily C57BL/6J.
Statistical Information
P-Value
p<0.01
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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