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Article

Normal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel.

American journal of physiology. Cell physiology - 1 Apr 2024

Vera Erwin, Cornejo Isabel, Henao Juan Carlos, Tribiños Felipe, Burgos Johanna, Sepúlveda Francisco V, Cid L Pablo

Abstract excerpt

K+ channel Kir7.1 expressed at the apical membrane of the retinal pigment epithelium (RPE) plays an essential role in retinal function. An isoleucine-to-threonine mutation at position 120 of the protein is responsible for blindness-causing vitreo-retinal dystrophy. We have studied the molecular mechanism of action of Kir7.1-I120T in vitro by heterologous expression and in vivo in CRISPR-generated knockin mice....

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PMID: 38406825
DOI: 10.1152/ajpcell.00597.2023

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