International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 174 - MUTATIONS IN BETA-IV SPECTRIN CAUSE AUDITORY AND PERIPHERAL NEUROPATHIES IN QUIVERING MICE

Dr Nick Parkinson
Virginia Merill Bloedel Hearing Research Center
Depts of Otolaryngology-Head & Neck Surgery, & Pharmacology
University of Washington Medical School
University of Washington
Seattle
WA 98195
USA

Co-Authors: 1)Olsson CL, 1)Hallows JL, 1)McKee-Johnson J, 2)Noben-Trauth K, 1)Keough BP, 1)Kujawa SG, 1)Tempel BL
Institutions: 1)Virginia Merill Bloedel Hearing Research Center, Departments of Otolaryngology-Head & Neck Surgery, & Pharmacology, University of Washington Medical School, University of Washington, 2) Section of Neurogenetics, National Institute on Deafness & Other Communication Disorders, National Institute of Health

The autosomal recessive mouse mutation quivering (qv) arose spontaneously in 1953 showing progressive ataxia with hind limb paralysis, deafness, tremor, priapism, male infertility and shortened life span. Six additional spontaneous alleles, qvJ, qv2J, qv3J, qv4J, qvlnd and qvlnd-2J, have been identified. Ear flick (Preyer) responses to sound in homozygous qv/qv animals are absent, while cochlear morphology appears normal and cochlear potentials recorded at the round window are not different from controls. However, responses from brainstem auditory nuclei showed abnormal transmission of auditory information suggesting that deafness in qv is of central origin. Here we report that quivering mice carry loss-of-function mutations in the mouse bIV spectrin gene (Spnb4) causing alterations in ion channel localisation in myelinated nerves and providing a rationale for auditory and peripheral motor neuropathies.


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