ArticleJournal of the American Society of Nephrology : JASN2009
A mouse model for Meckel syndrome type 3.
Article in Journal of the American Society of Nephrology : JASN, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 49 citations in OpenAlex.
- CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.Genesis (New York, N.Y. : 2000) · 2026Article
- Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.Nature communications · 2025Article
- Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1.iScience · 2023Article
- Interpreting ciliopathy-associated missense variants of uncertain significance (VUS) in Caenorhabditis elegans.Human molecular genetics · 2022Article
- Polycystin-2 (TRPP2) regulates primary cilium length in LLC-PK1 renal epithelial cells.Frontiers in physiology · 2022Article
- Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis.Frontiers in cell and developmental biology · 2021Review
- Deregulation of Neuro-Developmental Genes and Primary Cilium Cytoskeleton Anomalies in iPSC Retinal Sheets from Human Syndromic Ciliopathies.Stem cell reports · 2020Article
- Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects.Disease models & mechanisms · 2019Article
- The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5.Scientific reports · 2019Article
- Cell type-specific regulation of ciliary transition zone assembly in vertebrates.The EMBO journal · 2018Article
- Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.Scientific reports · 2017Article
- An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Scientific reports · 2017Article
- Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.Experimental eye research · 2016Review
- The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.Disease models & mechanisms · 2015Article
- Mouse Models of Rare Craniofacial Disorders.Current topics in developmental biology · 2015Review
- Article
- Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.Organogenesis · 2014Review
- Evidence that TMEM67 causes polycystic kidney disease through activation of JNK/ERK-dependent pathways.Cell biology international · 2013Article
- The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.Human molecular genetics · 2013Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. Other malformations associated with MKS3 include cystic changes in the liver, polydactyly, and brain abnormalities (occipital encephalocele, hydrocephalus, and Dandy Walker-type cerebellar anomalies). The disorder is hypothesized to be caused by defects in primary cilia. In humans, the underlying mutated gene, TMEM67, encodes transmembrane protein 67, also called meckelin (OMIM 609884), which is an integral protein of the renal epithelial cell and membrane of the primary cilium. Here, we describe a spontaneous deletion of the mouse ortholog, Tmem67, which results in polycystic kidney disease and death by 3 wk after birth. Hydrocephalus also occurs in some mutants. We verified the mutated gene by transgenic rescue and characterized the phenotype with microcomputed tomography, histology, scanning electron microscopy, and immunohistochemistry. This mutant provides a mouse model for MKS3 and adds to the growing set of mammalian models essential for studying the role of the primary cilium in kidney function.
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