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Article

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

Human molecular genetics - 15 Jul 2015

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

Abstract excerpt

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 fo...

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PMID: 25877302
DOI: 10.1093/hmg/ddv137
PMCID: PMC4476446

Genes

NPHP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25877302-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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