Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.

Autor:	Geng X; Cardiovascular Biology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Chen L; Cardiovascular Biology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Srinivasan RS; Cardiovascular Biology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Kylat RJ; Department of Pediatrics, University of Arizona-Tucson, Tucson, AZ, USA., Witte MH; Department of Surgery, University of Arizona-Tucson, Tucson, AZ, USA., Erickson RJ; Department of Pediatrics, University of Arizona-Tucson, Tucson, AZ, USA.
Jazyk:	angličtina
Zdroj:	Lymphology [Lymphology] 2022; Vol. 55 (3), pp. 129-134.
Abstrakt:	We have studied the lymphatic phenotypes of 2 mutations, known to cause abnormalities of lymphatics in humans, in mice. The Cx47 R260C mutation (variably penetrant in humans heterozygous for it and causing limb lymphedema) had an adult mouse phenotype of hyperplasia and increased lymph nodes only in homozygous condition but we did not find any anatomical phenotype in day 16.5 homozygous embryos. Mice harboring the Sos1 mutation E846K (causing Noonan's in man which occasionally shows lymphatic dysplasia) had no adult heterozygous phenotype in lymphatic vessel appearance and drainage (homozygotes are early embryonic lethals) while day 16.5 heterozygous embryos also had no detectable anatomical phenotype. Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose. (Copyright by International Society of Lymphology.)
Databáze:	MEDLINE
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