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Deletion of the alpha-synuclein locus in a subpopulation of C57BL/6J inbred mice

Specht, CG; Schoepfer, R; (2001) Deletion of the alpha-synuclein locus in a subpopulation of C57BL/6J inbred mice. BMC Neuroscience , 2 , Article 11. 10.1186/1471-2202-2-11. Green open access

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Abstract

Background: The presynaptic protein alpha-synuclein is involved in a range of neurodegenerative diseases. Here we analyze potential compensatory mechanisms in alpha-synuclein null mutant mice. Furthermore, the findings reveal problems that may be associated with inbred mouse strains.Results: Expression profiling by cDNA array technology in a transgenic mouse model revealed striking differences only in the expression level of alpha-synuclein. This was caused by a chromosomal deletion of the alpha-synuclein locus in the C57BL/6J inbred strain used for backcrossing. However, the deletion is only present in a subpopulation of C57BL/6J mice, namely animals from Harlan. No other genes are known to be affected by the deletion, which is estimated to be smaller than 2 cM. We propose to name this strain C57BL/6S. C57BL/6S animals appear phenotypically normal. They show no upregulation of beta-synuclein or gamma-synuclein, excluding a compensatory mechanism. Also, the expression of synphilin-1 was unaffected.Conclusions: The C57BL/6S strain should help in the understanding of the physiological function of alpha-synuclein and its involvement in synucleinopathies. Also, the findings exemplify unexpected complications that may arise during the study of transgenic models or inbred strains, in particular when combined with genome wide screening techniques.

Type: Article
Title: Deletion of the alpha-synuclein locus in a subpopulation of C57BL/6J inbred mice
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/1471-2202-2-11
Publisher version: http://dx.doi.org/10.1186/1471-2202-2-11
Language: English
Additional information: © 2001 Specht and Schoepfer; licensee BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.
Keywords: Animals, Carrier Proteins, Crosses, Genetic, Gene Deletion, Gene Expression Profiling, Gene Expression Regulation, Developmental, In Situ Hybridization, Mice, Mice, Inbred C57BL, Mice, Mutant Strains, Models, Animal, Nerve Tissue Proteins, Oligonucleotide Array Sequence Analysis, Phenotype, RNA, Messenger, Synucleins, alpha-Synuclein, beta-Synuclein, gamma-Synuclein
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Neuro, Physiology and Pharmacology
URI: https://discovery.ucl.ac.uk/id/eprint/99297
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