Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15

doi:10.1016/0888-7543(95)80198-U

Genomics

Volume 26, Issue 2, 20 March 1995, Pages 171-177

https://doi.org/10.1016/0888-7543(95)80198-U Get rights and content

Abstract

Homozygous transgenic mice from line A4 have an early-onset progressive neuromuscular disorder characterized by paralysis of the rear limbs, muscle atrophy, and lethality by 4 weeks of age. The transgene insertion site was mapped to distal chromosome 15 close to the locus motor endplate disease (med). The sequence of mouse DNA flanking the insertion site junctions was determined. A small (<20 kb) deletion was detected at the insertion site, with no evidence of additional rearrangement of the chromosomal DNA. Noncomplementation of the transgene-induced mutation and med was demonstrated in a cross with med^J/ + mice. The new allele is designated med^TgNA4Bs (med^tg). The homologous human locus MED was assigned to chromosome 12. Synaptotagmin 1 and contactin 1 were eliminated as candidate genes for the med mutation. The transgene-induced allele provides molecular access to the med gene, whose function is required for synaptic transmission at the neuromuscular junction and long-term survival of cerebellar Purkinje cells.

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Insertional mutation of the motor endplate disease (med) locus on mouse chromosome 15

Abstract

Genomics

Genomics

J. Biol. Chem.

Cell

J. Neurol. Sci.

J. Biol. Chem.

Cell

J. Neurol. Sci.

J. Neurol. Sci.

Cell

J. Biol. Chem.

Genomics

Genomics

Trends Genet.

Cell

J. Biol. Chem.

Neuromusc. Disord.

Cell

J. Biol. Chem.

Cell

Linkage data, Ca and med

Mouse News Lett.

A genetic linkage map of the mouse: Current applications and future prospects

Science

A genetic map of the mouse suitable for typing intraspecific crosses

Genetics

Hereditary motor end-plate disease in the mouse: Light and electron microscopic studies

J. Neurol. Neurosurg. Psychiat.