Document Detail

Genetic modifiers that aggravate the neurological phenotype of the wobbler mouse.
MedLine Citation:
PMID:  11930176     Owner:  NLM     Status:  MEDLINE    
The autosomal recessive mutation wobbler of the mouse (phenotype WR; genotype wr/wr) causes muscular atrophy due to motoneuron degeneration with 100% penetrance on the standard Mus musculus laboratorius C57BL/6J background. In inter- and backcrosses with M. m. castaneus strain CAST/EI we have observed a variability in the severity of neurological symptoms. Approximately 15% of the WR (wr/wr) CAST/B6 hybrids were modified wobbler (WR*) mice defined by an aggravated neuromuscular phenotype with hindlimbs severely affected in addition to forelimbs. Histologically the overt WR* phenotype was paralleled by a caudally extended neurodegeneration in the ventral horn of the spinal cord with severe astrogliosis, and levels of acetylcholine receptor alpha-subunit mRNA in leg muscle much higher than in standard WR mice. Segregation analysis, using 68 polymorphic autosomal markers in a whole genome scan, revealed a major modifier gene locus, termed wrmod1, on chromosome 14. Individual recombination events in chromosome 14 consomic mice narrowed the wrmod1 candidate region to a 29 cM interval between D14MIT154 and D14MIT105, a region homologous to human chromosome 13q. Our analysis provides access to genes that modify neurodegeneration, the human counterparts of which may be responsible for the variable expression of hereditary spinal muscular atrophies.
Michael Ulbrich; Volker C Schmidt; Melanie Ronsiek; Anke Mussmann; Jörg W Bartsch; Martin Augustin; Harald Jockusch; Thomas Schmitt-John
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuroreport     Volume:  13     ISSN:  0959-4965     ISO Abbreviation:  Neuroreport     Publication Date:  2002 Mar 
Date Detail:
Created Date:  2002-04-03     Completed Date:  2002-06-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9100935     Medline TA:  Neuroreport     Country:  England    
Other Details:
Languages:  eng     Pagination:  535-9     Citation Subset:  IM    
Developmental Biology and Molecular Pathology, Bielefeld University, D-33501, Germany.
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MeSH Terms
Brain / metabolism
Chromosome Mapping / methods
Gliosis / genetics,  pathology
Haplotypes / genetics
Mice, Inbred C57BL
Mice, Neurologic Mutants / genetics*
Mutation / genetics
Neurodegenerative Diseases / genetics,  pathology
Spinal Cord / pathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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