Mouse models of ciliopathies: the state of the art

被引：68

作者：

Norris, Dominic P. ^{[1
]}

Grimes, Daniel T. ^{[1
]}

机构：

[1] MRC Harwell, Mammalian Genet Unit, Didcot OX11 0RD, Oxon, England

来源：

DISEASE MODELS & MECHANISMS | 2012年 / 5卷 / 03期

基金：

英国医学研究理事会;

关键词：

BARDET-BIEDL-SYNDROME; LEFT-RIGHT ASYMMETRY; ALSTROM-SYNDROME PROTEIN; OUTER SEGMENT FORMATION; PLANAR CELL POLARITY; PRIMARY CILIUM; INTRAFLAGELLAR TRANSPORT; RETINAL DEGENERATION; JOUBERT SYNDROME; SONIC HEDGEHOG;

D O I：

10.1242/dmm.009340

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Gruber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS) and Alstrom syndrome (ALS). Reflecting the manifold requirements for cilia in signalling, sensation and motility, different ciliopathies exhibit common elements. The mouse has been used widely as a model organism for the study of ciliopathies. Although many mutant alleles have proved lethal, continued investigations have led to the development of better models. Here, we review current mouse models of a core set of ciliopathies, their utility and future prospects.

引用

页码：299 / 312

页数：14

共 150 条

[1] In search of triallelism in Bardet-Biedl syndrome [J].

Abu-Safieh, Leen ;

Al-Anazi, Shamsa ;

Al-Abdi, Lama ;

Hashem, Mais ;

Alkuraya, Hisham ;

Alamr, Mushari ;

Sirelkhatim, Mugtaba O. ;

Al-Hassnan, Zuhair ;

Alkuraya, Basim ;

Mohamed, Jawahir Y. ;

Al-Salem, Ahmad ;

Alrashed, May ;

Faqeih, Eissa ;

Softah, Ameen ;

Al-Hashem, Amal ;

Wali, Sami ;

Rahbeeni, Zuhair ;

Alsayed, Moeen ;

Khan, Arif O. ;

Al-Gazali, Lihadh ;

Taschner, Peter E. M. ;

Al-Hazzaa, Selwa ;

Alkuraya, Fowzan S. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (04) :420-427

[2] ENU mutagenesis, a way forward to understand gene function [J].

Acevedo-Arozena, Abraham ;

Wells, Sara ;

Potter, Paul ;

Kelly, Michelle ;

Cox, Roger D. ;

Brown, Steve D. M. .

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2008, 9 :49-69

[3] Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice [J].

Arsov, T ;

Larter, CZ ;

Nolan, CJ ;

Petrovsky, N ;

Goodnow, CC ;

Teoh, NC ;

Yeh, MM ;

Farrell, GC .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2006, 342 (04) :1152-1159

[4] Fat Aussie -: A new Alstrom syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis [J].

Arsov, Todor ;

Silva, Diego G. ;

O'Bryan, Moira K. ;

Sainsbury, Amanda ;

Lee, Nicola J. ;

Kennedy, Claire ;

Manji, Shehnaaz S. M. ;

Nelms, Keats ;

Liu, Conan ;

Vinuesa, Carola G. ;

de Kretser, David M. .

MOLECULAR ENDOCRINOLOGY, 2006, 20 (07) :1610-1622

[5] Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies [J].

Ashe, Alyson ;

Butterfield, Natalie C. ;

Town, Liam ;

Courtney, Andrew D. ;

Cooper, Ashley N. ;

Ferguson, Charles ;

Barry, Rachael ;

Olsson, Fredrik ;

Liem, Karel F., Jr. ;

Parton, Robert G. ;

Wainwright, Brandon J. ;

Anderson, Kathryn V. ;

Whitelaw, Emma ;

Wicking, Carol .

HUMAN MOLECULAR GENETICS, 2012, 21 (08) :1808-1823

[6] Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis [J].

Attanasio, Massimo ;

Uhlenhaut, N. Henriette ;

Sousa, Vitor H. ;

O'Toole, John F. ;

Otto, Edgar ;

Anlag, Katrin ;

Klugmann, Claudia ;

Treier, Anna-Corina ;

Helou, Juliana ;

Sayer, John A. ;

Seelow, Dominik ;

Nurnberg, Gudrun ;

Becker, Christian ;

Chudley, Albert E. ;

Nurnberg, Peter ;

Hildebrandt, Friedhelm ;

Treier, Mathias .

NATURE GENETICS, 2007, 39 (08) :1018-1024

[7] The ciliopathies: An emerging class of human genetic disorders [J].

Badano, Jose L. ;

Mitsuma, Norimasa ;

Beales, Phil L. ;

Katsanis, Nicholas .

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2006, 7 :125-148

[8] Making Sense of Cilia in Disease: The Human Cilloplathies [J].

Baker, Kate ;

Beales, Philip L. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2009, 151C (04) :281-295

[9] Leptin and its receptors are present in the rat olfactory mucosa and modulated by the nutritional status [J].

Baly, Christine ;

Aioun, Josiane ;

Badonnel, Karine ;

Lacroix, Marie-Christine ;

Durieux, Didier ;

Schlegel, Claire ;

Salesse, Roland ;

Caillol, Monique .

BRAIN RESEARCH, 2007, 1129 (01) :130-141

[10] The Primary Cilium as a Complex Signaling Center [J].

Berbari, Nicolas F. ;

O'Connor, Amber K. ;

Haycraft, Courtney J. ;

Yoder, Bradley K. .

CURRENT BIOLOGY, 2009, 19 (13) :R526-R535

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