The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.

doi:10.1242/dmm.050594

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Article

The missense mutation C667F in murine β-dystroglycan causes embryonic lethality, myopathy and blood-brain barrier destabilization.

Disease models & mechanisms - 1 Jun 2024

Tan Rui Lois, Sciandra Francesca, Hübner Wolfgang, Bozzi Manuela, Reimann Jens, Schoch Susanne, Brancaccio Andrea, Blaess Sandra

Abstract excerpt

Dystroglycan (DG) is an extracellular matrix receptor consisting of an α- and a β-DG subunit encoded by the DAG1 gene. The homozygous mutation (c.2006G>T, p.Cys669Phe) in β-DG causes muscle-eye-brain disease with multicystic leukodystrophy in humans. In a mouse model of this primary dystroglycanopathy, approximately two-thirds of homozygous embryos fail to develop to term. Mutant mice that are born undergo a...

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PMID: 38616731
DOI: 10.1242/dmm.050594
PMCID: PMC11212641

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DAG1

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