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- Title
Molecular definition of an allelic series of mutations disrupting the mouse Lmx1a ( dreher) gene.
- Authors
Chizhikov, Victor; Steshina, Ekaterina; Roberts, Richard; Ilkin, Yesim; Washburn, Linda; Millen, Kathleen J.
- Abstract
Mice homozygous for the dreher ( dr) mutation are characterized by pigmentation and skeletal abnormalities and striking behavioral phenotypes, including ataxia, vestibular deficits, and hyperactivity. The ataxia is associated with a cerebellar malformation that is remarkably similar to human Dandy-Walker malformation. Previously, positional cloning identified mutations in LIM homeobox transcription factor 1 alpha gene ( Lmx1a) in three dr alleles. Two of these alleles, however, are extinct and unavailable for further analysis. In this article we report a new spontaneous dr allele and describe the Lmx1a mutations in this and six additional dr alleles. Strikingly, deletion null, missense, and frameshift mutations in these alleles all cause similar cerebellar malformations, suggesting that all dr mutations analyzed to date are null alleles.
- Subjects
GENETIC mutation; CEREBELLAR ataxia; ZYGOTES; GENETIC transcription; TRANSCRIPTION factors; CENTRAL nervous system physiology; MICE; PHENOTYPES; GENETICS
- Publication
Mammalian Genome, 2006, Vol 17, Issue 10, p1025
- ISSN
0938-8990
- Publication type
Article
- DOI
10.1007/s00335-006-0033-7