Literature DB >> 8812488

The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3.

D Kapfhamer1, H O Sweet, D Sufalko, S Warren, K R Johnson, M Burmeister.   

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.

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Year:  1996        PMID: 8812488     DOI: 10.1006/geno.1996.0394

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  9 in total

1.  Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints.

Authors:  R Puttagunta; L A Gordon; G E Meyer; D Kapfhamer; J E Lamerdin; P Kantheti; K M Portman; W K Chung; D E Jenne; A S Olsen; M Burmeister
Journal:  Genome Res       Date:  2000-09       Impact factor: 9.043

2.  Fine Mapping of a Deafness Mutation hml on Mouse Chromosome 10.

Authors:  Qing Yin Zheng; Belinda S Harris; Patricia F Ward-Bailey; Heping Yu; Roderick T Bronson; Muriel T Davisson; Kenneth R Johnson
Journal:  Acad J Xian Jiaotong Univ       Date:  2004-06

Review 3.  Animal models of dystonia: Lessons from a mutant rat.

Authors:  Mark S LeDoux
Journal:  Neurobiol Dis       Date:  2010-11-21       Impact factor: 5.996

4.  Caytaxin deficiency disrupts signaling pathways in cerebellar cortex.

Authors:  J Xiao; S Gong; M S Ledoux
Journal:  Neuroscience       Date:  2006-11-07       Impact factor: 3.590

5.  Alterations in cerebellar physiology are associated with a stiff-legged gait in Atcay(ji-hes) mice.

Authors:  Katiuska Luna-Cancalon; Kristine M Sikora; Samuel S Pappas; Vikrant Singh; Heike Wulff; Henry L Paulson; Margit Burmeister; Vikram G Shakkottai
Journal:  Neurobiol Dis       Date:  2014-04-12       Impact factor: 5.996

6.  Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models.

Authors:  Erin N Hales; Christina Esparza; Sichong Peng; Anna R Dahlgren; Janel M Peterson; Andrew D Miller; Carrie J Finno
Journal:  Genes (Basel)       Date:  2020-01-10       Impact factor: 4.096

7.  Identification of a monogenic locus (jams1) causing juvenile audiogenic seizures in mice.

Authors:  Hidemi Misawa; Elliott H Sherr; David J Lee; Dane M Chetkovich; Andrew Tan; Christoph E Schreiner; David S Bredt
Journal:  J Neurosci       Date:  2002-12-01       Impact factor: 6.167

8.  Expression of Caytaxin protein in Cayman Ataxia mouse models correlates with phenotype severity.

Authors:  Kristine M Sikora; LaGina M Nosavanh; Prameela Kantheti; Margit Burmeister; Michael Hortsch
Journal:  PLoS One       Date:  2012-11-30       Impact factor: 3.240

9.  Nerve growth factor stimulates interaction of Cayman ataxia protein BNIP-H/Caytaxin with peptidyl-prolyl isomerase Pin1 in differentiating neurons.

Authors:  Jan Paul Buschdorf; Li Li Chew; Unice Jim Kim Soh; Yih-Cherng Liou; Boon Chuan Low
Journal:  PLoS One       Date:  2008-07-16       Impact factor: 3.240

  9 in total

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