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Updated: Mar 9, 2026
Mouse Genome Engineering Using Designer Nucleases
Published on: April 2, 2014
A kind of rd1 mouse in C57BL/6J mice from crossing with a mutated Kunming mouse
Weiming Yan1, Lu Yao1, Wei Liu2
1Department of Clinical Medicine, Faculty of Aerospace Medicine, Key Laboratory of Aerospace Medicine of the National Education Ministry, The Fourth Military University, Xi'an, Shaanxi Province, China.
Abstract:
We occasionally discovered a mouse with spontaneous retinitis pigmentosa (RP) from Kunming (KM) mouse breeding colony, with no obvious waveforms in ERG recordings. The aim of this study is to cross the spontaneously hereditary retinal degeneration mice (temporarily designated as KM/rd mice) derived from KM mice with C57BL/6J mice to establish a congenic inbred strain (temporarily designated as the B6/rd mice), and study the ocular phenotype and genotype of the mice. Fundus photography, tissue morphology, electroretinography (ERG), qRT-PCR, western blot and DNA sequence analysis were performed to observe the ocular phenotype and genotype of KM/rd and B6/rd mice. The fundus photography showed progressive retinal vascular degeneration and depigmentation in KM/rd and B6/rd mice. Compared to wild-type mice, the histological analysis revealed that the outer nuclear layer of the mutated mice was significantly reduced at 14days post born (P14), and almost disappeared by P21. No obvious waveforms were detected at P14 and P21 in the ERG from KM/rd and B6/rd mice. qRT-PCR results showed that the expression quantities of mRNA of pde6b gene in KM/rd and B6/rd mice were significantly lower compared with those of wild-type controls at P21. Western blot results confirmed an abnormal protein expression of pde6b gene in KM/rd and B6/rd mice with no protein products, while there was an obvious protein expression in wild-type mice. The nonsense mutation in exon 7 (a mutation that changes the codon 347 from TAC to TAA) in the pde6b gene of KM/rd and B6/rd mice was identified by genomic DNA sequence analysis. All these findings revealed that the ocular phenotype and genotype of KM/rd and B6/rd mice were similar to those of rd1 mice, which indicates that KM/rd and B6/rd mice can be used as an RP mouse model.
Insights
Researchers identified a novel mouse model for retinitis pigmentosa (RP) by crossing mice with hereditary retinal degeneration. This new B6/rd mouse model exhibits RP-like symptoms and genetic mutations, making it valuable for studying the disease.
Area of Science:
- Genetics
- Ophthalmology
- Animal Models
Background:
- Spontaneous retinitis pigmentosa (RP) was observed in Kunming (KM) mice.
- These mice exhibited no discernible waveforms in electroretinography (ERG) recordings.
Purpose of the Study:
- To establish a congenic inbred strain (B6/rd mice) by crossing KM/rd mice with C57BL/6J mice.
- To characterize the ocular phenotype and genotype of the newly developed B6/rd mice.
Main Methods:
- Fundus photography, histological analysis, and electroretinography (ERG).
- Gene expression analysis using qRT-PCR and Western blot.
- Genomic DNA sequencing to identify mutations.
Main Results:
- Progressive retinal vascular degeneration and depigmentation were observed in both KM/rd and B6/rd mice.
- Significant reduction and near-complete loss of the outer nuclear layer were noted by post-natal day 21 (P21).
- ERG recordings showed no waveforms, and qRT-PCR/Western blot revealed abnormal or absent pde6b gene expression and protein products.
Conclusions:
- A nonsense mutation in exon 7 of the pde6b gene was identified as the cause of the observed phenotype.
- The B6/rd mice display ocular and genetic characteristics similar to rd1 mice.
- These findings validate the B6/rd mice as a suitable animal model for retinitis pigmentosa research.
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