Skip to main content
Log in

The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome

  • Published:
Mammalian Genome Aims and scope Submit manuscript

Abstract.

Tests for allelism among mice with four different mutant alleles at the shaker-with-syndactylism locus on mouse Chromosome (Chr) 18 provide evidence that the original radiation-induced mutation, sy, is a deletion including at least two genes associated with distinct phenotypes. Mice homozygous for sy have syndactylous feet and other skeletal malformations, are deaf, and exhibit abnormal behavior characteristic of vestibular dysfunction. Two less severe spontaneous mutations, shown to be allelic with sy, cause syndactylism when homozygous (hence named fused phalanges, sy fp and sy fp-2J), but do not affect hearing and behavior. Here we describe a third spontaneous mutation allelic with sy that does not affect foot morphology (hence named no syndactylism, sy ns), but that does cause deafness and balance defects when homozygous. Complementation test results indicate that sy fp and sy fp-2J are alleles of the same gene, but that sy ns is an allele of a different gene. The original sy mutation, therefore, includes both of the genes defined by these three spontaneous mutations. Typing of DNA markers in sy/sy mice revealed a deletion of approximately 1 cM in the sy region of Chr 18, including D18Mit52, D18Mit124, D18Mit181, and D18Mit205. The genetic relationships described here will aid in positional cloning efforts to identify the genes responsible for the disparate phenotypes associated with the sy locus.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Author information

Authors and Affiliations

Authors

Additional information

Received: 8 May 1998 / Accepted: 10 July 1998

Rights and permissions

Reprints and permissions

About this article

Cite this article

Johnson, K., Cook, S. & Zheng, Q. The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome. 9, 889–892 (1998). https://doi.org/10.1007/s003359900889

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s003359900889

Keywords

Navigation