A kind of rd1 mouse in C57BL/6J mice from crossing with a mutated Kunming mouse

被引：13

作者：

Yan, Weiming ^{[1
]}

Yao, Lu ^{[1
]}

Liu, Wei ^{[2
]}

Sun, Kai ^{[1
]}

Zhang, ZuoMing ^{[1
]}

Zhang, Lei ^{[1
]}

机构：

[1] Fourth Mil Univ, Natl Educ Minist, Key Lab Aerosp Med, Dept Clin Med,Fac Aerosp Med, Xian, Shaanxi Provinc, Peoples R China

[2] Shaanxi Univ Chinese Med, Ctr Med Expt, Xian Xianyang New Ecom Zone, Shiji Ave, Xian, Shaanxi Provinc, Peoples R China

来源：

GENE | 2017年 / 607卷

关键词：

Retinitis pigmentosa; Electroretinogram; Congenic inbred strain; rd1; Mutation; Phenotype; Genotype; BETA-SUBUNIT; RETINAL DEGENERATION; MUTATIONS; GENE; PHOSPHODIESTERASE; MUTANTS; MODELS;

D O I：

10.1016/j.gene.2017.01.006

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 14 days 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. (C) 2017 Elsevier B.V. All rights reserved.

引用

页码：9 / 15

页数：7

共 23 条

[1] RETINAL DEGENERATION IN THE RD MOUSE IS CAUSED BY A DEFECT IN THE BETA-SUBUNIT OF ROD CGMP-PHOSPHODIESTERASE [J].