ArticleMammalian genome : official journal of the International Mammalian Genome Society1998
The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 23 citations in OpenAlex.
- Genetic models of fibrillinopathies.Genetics · 2024Review
- NKCC1, an Elusive Molecular Target in Brain Development: Making Sense of the Existing Data.Cells · 2020Review
- Optimizing Genomic Methods for Mapping and Identification of Candidate Variants in ENU Mutagenesis Screens Using Inbred Mice.G3 (Bethesda, Md.) · 2018Article
- Ocular phenotype of Fbn2-null mice.Investigative ophthalmology & visual science · 2013Article
- A trans-acting protein effect causes severe eye malformation in the Mp mouse.PLoS genetics · 2013Article
- ENU mutagenesis reveals a novel phenotype of reduced limb strength in mice lacking fibrillin 2.PloS one · 2010Article
- Tympanometry assessment of 61 inbred strains of mice.Hearing research · 2007Article
- The molecular genetics of Marfan syndrome and related disorders.Journal of medical genetics · 2006Review
- Inner ear proteomics of mouse models for deafness, a discovery strategy.Brain research · 2006Review
- Fine Mapping of a Deafness Mutation hml on Mouse Chromosome 10.Academic journal of Xian Jiaotong University : AJXJTU = Xi'an jiao tong da xue xue bao (Yi wen ban) · 2004Article
- Regulation of limb patterning by extracellular microfibrils.The Journal of cell biology · 2001Article
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3 authors at 1 institution in 1 country.
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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.
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