Mouse models of ciliopathies: the state of the art.

Disease Models & Mechanisms
Dominic P Norris, Daniel T Grimes

Abstract

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-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS) and Alström 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.

References

Oct 1, 1977·Archives of Disease in Childhood·F OberklaidP Campbell
Apr 30, 1993·Science·T YokoyamaP A Overbeek
Apr 29, 1999·Proceedings of the National Academy of Sciences of the United States of America·J R MarszalekL S Goldstein
Nov 5, 1999·Molecular Cell·Y OkadaN Hirokawa
Feb 17, 2001·American Journal of Human Genetics·M I FerranteB Franco
May 2, 2001·The Anatomical Record·T C McQuinnA Wessels
Sep 22, 2001·Science·A H BurghesA de La Chapelle
Mar 26, 2002·Human Molecular Genetics·Inés Ibañez-TallonNathaniel Heintz
Jun 14, 2002·Current Biology : CB·Petra PennekampBernd Dworniczak
Jul 26, 2002·Human Molecular Genetics·Guanqing WuStefan Somlo
Nov 5, 2002·Nature Reviews. Molecular Cell Biology·Joel L Rosenbaum, George B Witman
Jan 7, 2003·Genes & Development·Clifford J Tabin, Kyle J Vogan
Jan 18, 2003·The Journal of Membrane Biology·H A Praetorius, K R Spring
Sep 19, 2003·The Journal of Allergy and Clinical Immunology·Mark A ChilversChristopher O'Callaghan
Nov 7, 2003·Nature·Danwei HuangfuKathryn V Anderson
Jun 3, 2004·Proceedings of the National Academy of Sciences of the United States of America·Kirk MykytynVal C Sheffield
Oct 1, 2004·Mammalian Genome : Official Journal of the International Mammalian Genome Society·Mohamed Mohideen QuwailidRoger D Cox
Nov 13, 2004·Proceedings of the National Academy of Sciences of the United States of America·Darryl Y NishimuraVal C Sheffield
Mar 10, 2005·Proceedings of the National Academy of Sciences of the United States of America·María J García-GarcíaKathryn V Anderson
Mar 18, 2005·Human Molecular Genetics·Melissa A FathVal C Sheffield
May 17, 2005·Journal of Molecular Biology·Julia R FormanJane Clarke
Aug 3, 2005·Proceedings of the National Academy of Sciences of the United States of America·Danwei Huangfu, Kathryn V Anderson
Oct 26, 2005·Current Biology : CB·Linda SchneiderSøren T Christensen
Dec 1, 2005·Differentiation; Research in Biological Diversity·Christina KarcherMartin Blum
Dec 17, 2005·Genes & Development·Jeremy F Reiter, William C Skarnes
Mar 7, 2006·Biochemical and Biophysical Research Communications·Todor ArsovGeoffrey C Farrell
Mar 9, 2006·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·John F O'TooleFriedhelm Hildebrandt
May 26, 2006·Annual Review of Genomics and Human Genetics·Jose L BadanoNicholas Katsanis
Aug 8, 2006·Current Biology : CB·Wallace F Marshall, Shigenori Nonaka
Sep 27, 2006·Genes to Cells : Devoted to Molecular & Cellular Mechanisms·Noriyuki Sugiyama, Takahiko Yokoyama
Oct 3, 2006·Annual Review of Physiology·Peter Satir, Søren Tvorup Christensen

❮ Previous
Next ❯

Citations

May 12, 2015·Bioscience·Jason M Brown, George B Witman
Feb 26, 2016·Cell Reports·Kimberly M JaffeRebecca D Burdine
Apr 1, 2015·Proceedings of the National Academy of Sciences of the United States of America·Ricardo VillaresCarlos Martínez-A
Sep 4, 2015·Developmental Biology·Sunit DuttaBrian P Brooks
Jun 28, 2014·Developmental Biology·Martin BlumMichael V Danilchik
Apr 20, 2014·Organogenesis·Andrew M FryRichard Bayliss
Apr 5, 2013·PloS One·Ovidiu D IancuRobert Hitzemann
Mar 13, 2016·Birth Defects Research. Part A, Clinical and Molecular Teratology·Christine K C LooGrant A Ramm
May 27, 2014·Reproductive Toxicology·Nicola Powles-Glover
Sep 18, 2016·Cold Spring Harbor Perspectives in Biology·Søren T ChristensenLotte B Pedersen
Sep 18, 2015·Cells·Nathalie FalkAndreas Gießl
Nov 28, 2017·Cilia·Paola RoncagliaJane Lomax
Aug 10, 2017·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Milena B FurtadoMoira K O'Bryan
May 28, 2019·Andrology·Laura GirardetClémence Belleannée
Apr 14, 2018·The EMBO Journal·Antonia WiegeringChristoph Gerhardt
Jul 30, 2020·Birth Defects Research·Yu JiChengji J Zhou
May 19, 2017·Journal of Neuropathology and Experimental Neurology·James P McAllisterDavid D Limbrick
Aug 14, 2020·Journal of Clinical Medicine·Lucía BañulsFrancisco Dasí
Apr 2, 2019·Frontiers in Genetics·Margarita M MarquesMaria C Marin
Dec 28, 2019·Proceedings of the National Academy of Sciences of the United States of America·Simon A RamsbottomColin G Miles
Dec 19, 2019·Frontiers in Cell and Developmental Biology·Michal PruskiYu-Qiang Ding
May 18, 2020·BMC Pulmonary Medicine·Fuad Al MutairiMajid Alfadhel
Jul 6, 2020·Human Molecular Genetics·Hervé HussonOxana Ibraghimov-Beskrovnaya
Nov 13, 2014·Médecine sciences : M/S·Christine Laclef
Sep 16, 2017·BioMed Research International·Yenniffer ÁvalosAlfredo Criollo
Oct 14, 2015·Reproductive Medicine and Biology·Kazuo Inaba, Katsutoshi Mizuno
Mar 28, 2019·Frontiers in Genetics·Gabrielle WhewayUNKNOWN Genomics England Research Consortium
Sep 25, 2020·G3 : Genes - Genomes - Genetics·Wendy A AlcarazBruce A Hamilton
Jun 20, 2020·Experimental Animals·Haruhiko MiyataMasahito Ikawa
Jul 23, 2020·Seminars in Cell & Developmental Biology·Elizabeth A Bearce, Daniel T Grimes
Mar 28, 2021·Pharmacology & Therapeutics·Max Duong PhuMelanie Philipp
Dec 31, 2019·Developmental Biology·Natalia A ShyloScott D Weatherbee
Oct 9, 2014·Development·Paraskevi GoggolidouDominic P Norris
Apr 10, 2014·Development·Martin BlumAxel Schweickert
Jun 1, 2021·Frontiers in Cell and Developmental Biology·Delayna PaulsonDarci M Fink
Jun 1, 2021·Frontiers in Cell and Developmental Biology·Marijn F StokmanAlexandre Benmerah
Jul 9, 2021·Fluids and Barriers of the CNS·Vijay KumarJaebong Kim

❮ Previous
Next ❯

Methods Mentioned

BETA
GTPases
genetic modification
gene-trap
gene trap

Software Mentioned

OFDS

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.