Literature DB >> 10602993

A deletion on chromosome 4 cosegregates with the whirler deafness mutation: exclusion of Orm1 as a candidate.

A J Paige1, B W Kiernan, A Varela, M J Rogers, D Hughes, K P Steel, S D Brown.   

Abstract

Whirler (wi) mice display profound deafness and a head-tossing and circling phenotype, showing an autosomal recessive mode of inheritance. The wi mutation has been shown to map close to the Orm gene cluster on mouse Chromosome (Chr) 4. We have, therefore, investigated the Orm loci as candidates for the whirler gene. Detailed mapping and analysis of the Orm gene cluster in both normal and whirler mice indicates the presence of a <48-kb deletion in whirler mice that disrupts the Orm1 locus. The Orm1 locus is also deleted in the CE/J mouse strain, and we discuss the candidature of Orm1 for the whirler gene.

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Year:  2000        PMID: 10602993     DOI: 10.1007/s003350010010

Source DB:  PubMed          Journal:  Mamm Genome        ISSN: 0938-8990            Impact factor:   2.957


  2 in total

1.  A mutation in Myo15 leads to Usher-like symptoms in LEW/Ztm-ci2 rats.

Authors:  Nadine Held; Bart M G Smits; Roland Gockeln; Stephanie Schubert; Heike Nave; Emily Northrup; Edwin Cuppen; Hans J Hedrich; Dirk Wedekind
Journal:  PLoS One       Date:  2011-03-29       Impact factor: 3.240

Review 2.  Usher Syndrome: Genetics of a Human Ciliopathy.

Authors:  Carla Fuster-García; Belén García-Bohórquez; Ana Rodríguez-Muñoz; Elena Aller; Teresa Jaijo; José M Millán; Gema García-García
Journal:  Int J Mol Sci       Date:  2021-06-23       Impact factor: 5.923

  2 in total

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