Journal article
Phenotypic heterogeneity in the stargazin allelic series
Mammalian genome, Vol.14(8), pp.506-513
08/2003
DOI: 10.1007/s00335-003-2268-x
PMID: 12925883
Abstract
The stargazer mutant mouse is characterized by its ataxic gait, head tossing, and absence seizures. The mutation was identified in the gamma2 subunit gene of the high voltage-dependent calcium channel, Cacng2. Subsequently, two allelic variants of stargazer have arisen, waggler and stargazer 3J. In this study, we have compared these new alleles to the original stargazer allele. All three mutations affect the Cacng2 mRNA levels as they all arise from disruptions within the introns of this gene. Our results show that the mutations cause reduced Cacng2 mRNA and protein levels. Stargazer and waggler mice have the least amount of mRNA and undetectable protein, whereas stargazer 3J appears to be the mildest allele, both in terms of the phenotype and protein expression. Electroencephalographic (EEG) analysis confirmed that stargazer has frequent spike-wave discharges (SWDs); the average duration of each discharge burst is 5 seconds and recurs every minute. The waggler allele causes a greater variation in SWD activity depending on the individual mouse, and the stargazer 3J mouse has no SWDs. The preliminary characterization of this heterogeneous allelic series provides a basis to explore more biochemical and physiological parameters relating to the role of the Cacng2 product in calcium channel activity, AMPA receptor localization, and cerebellar disturbances.
Details
- Title: Subtitle
- Phenotypic heterogeneity in the stargazin allelic series
- Creators
- Verity Letts - The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609 USAMyoung-Goo Kang - The Howard Hughes Medical Institute, Department of Physiology and Biophysics, Department of Neurology University of Iowa College of Medicine, Iowa City, Iowa 52242 USAConnie Mahaffey - The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609 USABarbara Beyer - The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609 USAHeather Tenbrink - The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609 USAKevin Campbell - The Howard Hughes Medical Institute, Department of Physiology and Biophysics, Department of Neurology University of Iowa College of Medicine, Iowa City, Iowa 52242 USAWayne Frankel - The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609 USA
- Resource Type
- Journal article
- Publication Details
- Mammalian genome, Vol.14(8), pp.506-513
- Publisher
- Springer-Verlag; New York
- DOI
- 10.1007/s00335-003-2268-x
- PMID
- 12925883
- ISSN
- 0938-8990
- eISSN
- 1432-1777
- Language
- English
- Date published
- 08/2003
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020998902771
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