Abca4-KO

品系全名

C57BL/6JSmo-Abca4em1Smoc

目录号

NM-KO-2104711

品系状态

活体

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基因信息

基因名
Abca4

基因曾用名

RmP; Abcr; Abc10; AW050280; D430003I15Rik

NCBI ID

11304

MGI ID

109424

Ensembl ID

ENSMUSG00000028125

Pubmed

Abca4

人类同源基因

ABCA4

品系描述

通过敲除Abca4基因exon 2，建立Abca4基因敲除小鼠模型。

疾病预测

黄斑变性疾病
Stargardt Disease

近似模型的表型

MGI:2653823

参考文献

Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH, Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell. 1999 Jul 9;98(1):13-23

黄斑变性疾病
Stargardt Disease

近似模型的表型

MGI:6159294
注：该品系需与Rdh8-KO(NM-KO-2109660)交配才可能获得预期表型

参考文献

Wu Y, Jin Q, Yao K, Zhao J, Chen J, Wu X, Gan L, Li J, Song X, Liu X, Cai X, Retinal metabolism in humans induces the formation of an unprecedented lipofuscin fluorophore 'pdA2E'. Biochem J. 2014 Jun 15;460(3):343-52

年龄相关性黄斑变性
Age Related Macular Degeneration 2

近似模型的表型

MGI:4410294
注：该品系需与Rdh8-KO(NM-KO-2109660)交配才可能获得预期表型

参考文献

Maeda T, Maeda A, Matosky M, Okano K, Roos S, Tang J, Palczewski K, Evaluation of potential therapies for a mouse model of human age-related macular degeneration caused by delayed all-trans-retinal clearance. Invest Ophthalmol Vis Sci. 2009 Oct;50(10):4917-25

验证数据

image.png

Fig.1 Detection of Abca4 expression in the lung, eye, pallium, liver and kidney by qPCR. (n=5, 3 male mice and 2 female mice in each group)

Abbr. HO, homozygous; WT, wild type.

image.png

Fig. 2 Detection of Cd59, Cfi, Cfh, Cfp, Cfb, C3 and C1s expression in eyes by qPCR (3 male mice in each  group, Mean ± SEM. t-test, *P < 0.05, ns: no significance). 

Abbr. HO, homozygous; WT, wild type.

image.png

Fig. 3 Detection of Cd59, Cfi, Cfh, Cfp, Cfb, C3 and C1s expression in eyes by qPCR (2 female mice in each  group, Mean ± SEM). 

Abbr. HO, homozygous; WT, wild type.

image.png

Fig.4 Detection of mouse ABCA4 expression in Abca4-KO mice in eyeball by WB. 

Abbr. M, marker; WT, wild type; HO, Homozygous.

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