title: The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3.
abstract: Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, unco-ordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we conclude that jittery is not likely to be a genetic mouse model for human Unverricht-Lundborg progressive myoclonus epilepsy (EPM1) on 21q22.3 nor for spinocerebellar ataxia II (SCA2) on 12q22-q24. The closely linked markers presented here will facilitate positional cloning of the ji gene.
authors.affiliation: Mental Health Research Institute, University of Michigan, Ann Arbor 48109-0720, USA.
authors.forename: D
authors.initials: D
authors.lastname: Kapfhamer
authors.forename: H O
authors.initials: HO
authors.lastname: Sweet
authors.forename: D
authors.initials: D
authors.lastname: Sufalko
authors.forename: S
authors.initials: S
authors.lastname: Warren
authors.forename: K R
authors.initials: KR
authors.lastname: Johnson
authors.forename: M
authors.initials: M
authors.lastname: Burmeister
mesh_terms: D000483:Alleles; D000818:Animals; D001259:Ataxia / Q000235:genetics; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004421:Dystonia / Q000235:genetics; D004831:Epilepsies, Myoclonic / Q000235:genetics; D005260:Female; D005298:Fertility / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D051379:Mice; D008809:Mice, Inbred C3H; D009069:Movement Disorders / Q000235:genetics*; D009154:Mutation; D012640:Seizures / Q000235:genetics