Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q

K D Mathews; K A Mills; H L Bailey; R L Schelper; J C Murray

doi:10.1002/mus.880181318

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Journal article

Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q

K D Mathews, K A Mills, H L Bailey, R L Schelper and J C Murray

Muscle & nerve, Vol.2, pp.S98-S102

1995

DOI: 10.1002/mus.880181318

PMID: 7739634

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Abstract

Myodystrophy (myd) is an autosomal-recessive mouse mutation with dystrophic skeletal muscle. We propose that myd may be a model of the human disorder facioscapulohumeral dystrophy (FSHD) on the basis of clinical features and homologous genetic map locations. FSHD maps to human 4q35, while myd maps to mouse chromosome 8. To explore the relationship between FSHD and myd, it is necessary to define the homologous regions of human chromosome 4 and mouse chromosome 8, and ultimately, identify the genes underlying both disorders. A kallikrein gene (Kal3) was previously mapped by in situ hybridization to mouse chromosome 8 and human 4q35. We report the genetic map location of Kal3, bringing to 4 the number of genes with homologues on human 4q31-35 placed on the genetic map of mouse chromosome 8. As a first step in gene isolation, we have narrowed the interval containing myd by typing 125 affected mice with microsatellite markers. Analysis of recombinants placed myd in an interval that is flanked by genes with homologues in human 4q.

Mutation

Muscular Dystrophy, Animal - genetics

Humans

Molecular Sequence Data

Chromosome Mapping

Scapula

Muscular Dystrophies - genetics

Mice, Mutant Strains - genetics

Chromosomes, Human, Pair 4

Sequence Homology

Rodent Diseases - genetics

Animals

Base Sequence

Mice

Face

Humerus

Molecular Probes - genetics

Disease Models, Animal

Details

Title: Subtitle: Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q
Creators: K D Mathews - University of Iowa College of Medicine, Department of Pediatrics, Iowa City, USA
K A Mills
H L Bailey
R L Schelper
J C Murray
Resource Type: Journal article
Publication Details: Muscle & nerve, Vol.2, pp.S98-S102
DOI: 10.1002/mus.880181318
PMID: 7739634
NLM abbreviation: Muscle Nerve
ISSN: 0148-639X
eISSN: 1097-4598
Publisher: United States
Grant note: 1 K08 NS 01591-01A1 / NINDS NIH HHS R01 HG00355 / NHGRI NIH HHS
Language: English
Date published: 1995
Academic Unit: Neurology; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Pediatric Dentistry; Craniofacial Anomalies Research Center; Neurology (Pediatrics); Dental Research
Record Identifier: 9984020628302771

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