Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

doi:10.1007/s00335-016-9664-5

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Article

Viable Ednra Y129F mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 2016

Sabrautzki Sibylle, Sandholzer Michael A, Lorenz-Depiereux Bettina, Brommage Robert, Przemeck Gerhard, Vargas Panesso Ingrid L, Vernaleken Alexandra, Garrett Lillian, Baron Katharina, Yildirim Ali O, Rozman Jan, Rathkolb Birgit, Gau Christine, Hans Wolfgang, Hoelter Sabine M, Marschall Susan, Stoeger Claudia, Becker Lore, Fuchs Helmut, Gailus-Durner Valerie, Klingenspor Martin, Klopstock Thomas, Lengger Christoph, Stefanie Leuchtenberger, Wolf Eckhard, Strom Tim M, Wurst Wolfgang, de Angelis Martin Hrabě

Abstract excerpt

Animal models resembling human mutations are valuable tools to research the features of complex human craniofacial syndromes. This is the first report on a viable dominant mouse model carrying a non-synonymous sequence variation within the endothelin receptor type A gene (Ednra c.386A>T, p.Tyr129Phe) derived by an ENU mutagenesis program. The identical amino acid substitution was reported recently as disease...

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PMID: 27671791
DOI: 10.1007/s00335-016-9664-5
PMCID: PMC5110705

Genes

EDN1
EDNRA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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