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Title: Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome
Authors: Vrijens, Karen
Thys, Sofie
De Jeu, Marcel T
Postnov, Andrei A
Pfister, Markus
Cox, Luk
Zwijsen, An
Van Hoof, Viviane
Mueller, Marcus
De Clerck, Nora M
De Zeeuw, Chris I
Van Camp, G
Van Laer, Lut #
Issue Date: Sep-2006
Series Title: Neurobiology of disease vol:24 issue:1 pages:28-40
Abstract: The mouse mutant Ozzy, originating from an ENU-mutagenesis programme, displays a head bobbing phenotype. We report here that Ozzy mice show a clear deficit in vestibulo-ocular reflex (VOR). Micro-CT scanning of the inner ears showed narrowing and truncations of at least one of the semicircular canals and loss of the ampullae. Frequency-specific auditory-evoked brainstem response (ABR) tests revealed a slight threshold increase in the middle frequency range compared to wild-type littermates. Linkage analysis localised the gene in a 5.5-cM region on chromosome 2. Subsequently, a 499 T-->A missense mutation was identified in Jag1, leading to a substitution of an evolutionary conserved tryptophane (W167R). Mutations in the human homologue of Jag1 cause Alagille syndrome (AGS), an autosomal dominant disorder associated with liver, heart, eye and skeletal abnormalities, accompanied by a characteristic facies. In human patients, it occasionally affects other organ systems like the kidney or the inner ear. Liver disease is the main diagnostic factor for AGS. Ozzy mice showed significantly less intrahepatic bile ducts than wild-type littermates. Thirty-seven percent of Ozzy mice showed heart defects. No eye or vertebral abnormalities could be detected. In conclusion, Ozzy mice show two of the major and one minor characteristic of AGS.
URI: 
ISSN: 0969-9961
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Molecular Biology (Celgen) (-)
# (joint) last author

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