Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

Recent studies identified a previously uncharacterized gene C5ORF42 (JBTS17) as a major cause of Joubert syndrome (JBTS), a ciliopathy associated with cerebellar abnormalities and other birth defects. Here we report the first Jbts17 mutant mouse model, Heart Under Glass (Hug), recovered from a forwa...

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Pubblicato in:Hum Mol Genet
Autori principali: Damerla, Rama Rao, Cui, Cheng, Gabriel, George C., Liu, Xiaoqin, Craige, Branch, Gibbs, Brian C., Francis, Richard, Li, You, Chatterjee, Bishwanath, San Agustin, Jovenal T., Eguether, Thibaut, Subramanian, Ramiah, Witman, George B., Michaud, Jacques L., Pazour, Gregory J., Lo, Cecilia W.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2015
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4476446/
https://ncbi.nlm.nih.gov/pubmed/25877302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv137
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