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Article

Abnormal lymphatic phenotype in a CRISPR mouse model of the human lymphedema-causing Connexin47 R260C point mutation.

Lymphology - 1 Jan 2021

Mustacich D J, Kylat R I, Bernas M J, Myles R J, Jones J A, Kanady J D, Simon A M, Georgieva T G, Witte M H, Erickson R P, Pires P W

Abstract excerpt

Connexin proteins form gap junctions controlling exchange of ions and small molecules between cells and play an important role in movement of lymph within lymphatic vessels. Connexin47 (CX47) is highly expressed in lymphatic endothelial cells and CX47 missense mutations, i.e., R260C, cosegregate with primary lymphedema in humans. However, studies utilizing CX47 knockout mice have failed to demonstrate any...

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PMID: 34735753

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