Utilize este identificador para referenciar este registo: https://hdl.handle.net/1822/64290

TítuloNeurodevelopmental delay in the Cln3Δex7/8 mouse model for Batten disease
Autor(es)Osório, Nuno S.
Marques, Maria Belém Sousa Sampaio
Chan, C-H
Oliveira, P.
Pearce, D. A.
Sousa, Nuno
Rodrigues, Fernando José dos Santos
Palavras-chaveAging
Animals
Brain
Child
Developmental Disabilities
Disease Models, Animal
Female
Genetic Predisposition to Disease
Genotype
Heterozygote
Humans
Male
Membrane Glycoproteins
Mice
Mice, Inbred C57BL
Mice, Transgenic
Molecular Chaperones
Motor Skills Disorders
Neuronal Ceroid-Lipofuscinoses
Batten
CLN3
Genetics
Batten, CLN3, disease models, genetics, mousebehaviour, neurodevelopment, neuronal ceroid lipofuscinosis
mouse behaviour
Neurodevelopment
Neuronal ceroid lipofuscinosis
disease models
DataAbr-2009
EditoraWiley
RevistaGenes, Brain and Behavior
CitaçãoOsório, N. S., Sampaio‐Marques, B., Chan, C. H., Oliveira, P., et. al. (2009). Neurodevelopmental delay in the Cln3Δex7/8 mouse model for Batten disease. Genes, Brain and Behavior, 8(3), 337-345
Resumo(s)Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is a fatal inherited neurodegenerative disorder. The major clinical features of this disease are vision loss, seizures and progressive cognitive and motor decline starting in childhood. Mutations in CLN3 are known to cause the disease, allowing the generation of mouse models that are powerful tools for JNCL research. In this study, we applied behavioural phenotyping protocols to test for early behavioural alterations in Cln3(Deltaex7/8) knock-in mice, a genetic model that harbours the most common disease-causing CLN3 mutation. We found delayed acquisition of developmental milestones, including negative geotaxis, grasping, wire suspension time and postural reflex in both homozygous and heterozygous Cln3(Deltaex7/8) preweaning pups. To further investigate the consequences of this neurodevelopmental delay, we studied the behaviour of juvenile mice and found that homozygous and heterozygous Cln3(Deltaex7/8) knock-in mice also exhibit deficits in exploratory activity. Moreover, when analysing motor behaviour, we observed severe motor deficits in Cln3(Deltaex7/8) homozygous mice, but only a mild impairment in motor co-ordination and ambulatory gait in Cln3(Deltaex7/8) heterozygous animals. This study reveals previously overlooked behaviour deficits in neonate and young adult Cln3(Deltaex7/8) mice indicating neurodevelopmental delay as a putative novel component of JNCL.
TipoArtigo
URIhttps://hdl.handle.net/1822/64290
DOI10.1111/j.1601-183X.2009.00478.x
ISSN1601-1848
e-ISSN1601-183X
Versão da editorahttps://onlinelibrary.wiley.com/doi/full/10.1111/j.1601-183X.2009.00478.x
Arbitragem científicayes
AcessoAcesso aberto
Aparece nas coleções:ICVS - Artigos em revistas internacionais / Papers in international journals

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