Faculty Research 1990 - 1999

Title

The stumbler mutation maps to proximal mouse chromosome 2.

Document Type

Article

Publication Date

1994

Keywords

Base-Sequence, Cerebellar-Ataxia: ge, Chromosome-Mapping, Crosses-Genetic, Female, Genetic-Markers, Male, Mice: ge, Mice-Inbred-C3H, Mice-Inbred-C57BL, Mice-Neurologic-Mutants, Molecular-Sequence-Data, Mutation, Polymerase-Chain-Reaction, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-NON-P-H-S, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Mamm Genome 1994 Nov;5(11):659-62

Grant

R01NS31348/NS/NINDS, U01HD28882/HD/NICHD, CA34196/CA/NCI

Abstract

The cerebellar mouse mutation stumbler (stu) was mapped to proximal Chromosome (Chr) 2 with a recently developed polymerase chain reaction assay for endogenous retroviruses that vary between mouse strains. The stu locus resides between the markers D2Mit5 and D2Mit7. A number of developmentally or neurologically relevant candidate genes map in this region, including Bmi1, Dbh, Grin1, Notch1, Pax8, Rxra, and Spna2. Knowing the chromosomal localization of stu should simplify maintenance of the stumbler mouse stock and also enable analysis of the cerebellar defect in presymptomatic individuals.

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