RGD Reference Report - A mouse model for Meckel syndrome type 3. - Rat Genome Database

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A mouse model for Meckel syndrome type 3.

Authors: Cook, SA  Collin, GB  Bronson, RT  Naggert, JK  Liu, DP  Akeson, EC  Davisson, MT 
Citation: Cook SA, etal., J Am Soc Nephrol. 2009 Apr;20(4):753-64. doi: 10.1681/ASN.2008040412. Epub 2009 Feb 11.
RGD ID: 11535945
Pubmed: PMID:19211713   (View Abstract at PubMed)
PMCID: PMC2663826   (View Article at PubMed Central)
DOI: DOI:10.1681/ASN.2008040412   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Meckel syndrome 3  ISOTmem67 (Mus musculus)11535945; 11535945DNA:deletionRGD 
Meckel syndrome 3  IAGP 11535945DNA:deletionRGD 

Objects Annotated

Genes (Rattus norvegicus)
Tmem67  (transmembrane protein 67)

Genes (Mus musculus)
Tmem67  (transmembrane protein 67)

Genes (Homo sapiens)
TMEM67  (transmembrane protein 67)


Additional Information