An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.

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Title

An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.

Content partner

The University of Auckland Library

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ResearchSpace@Auckland

Description

Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p.(Ile681Asn; Ile687Ser) mutations identified in ovine TMEM67 were pathogenic in zebrafish phenotype rescue assays. Meckelin protein was ...

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Format

Research paper

Research format

Journal article

Date created

2017-05-09

Creator

Stayner, C / Poole, CA / McGlashan, Susan / Pilanthananond, M / Brauning, R / Markie, D / Lett, B / Slobbe, L / Chae, A / Johnstone, AC / Jensen, Cynthia / McEwan, JC / Dittmer, K / Parker, K / Wiles, A / Blackburne, W / Leichter, A / Leask, M / Pinnapureddy, A / Jennings, M / Horsfield, JA / Walker, RJ / Eccles, Michael

URL

http://hdl.handle.net/2292/41839

Related subjects

Kidney / Cilia / Chromosomes, Mammalian / Golgi Apparatus / Epithelial Cells / Animals / Zebrafish / Sheep / Pancreatic Cyst / Hepatorenal Syndrome / Dandy-Walker Syndrome / Abnormalities, Multiple / Disease Models, Animal / Membrane Proteins / RNA, Messenger / Amino Acid Substitution / Base Sequence / Homozygote / Mutation / Mutation, Missense / Genetic Loci

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