Details

Autor(en) / Beteiligte

• Orhan, Elise
• Neuillé, Marion
• de Sousa Dias, Miguel
• Pugliese, Thomas
• Michiels, Christelle
• Condroyer, Christel
• Antonio, Aline
• Sahel, José-Alain
• Audo, Isabelle
• Zeitz, Christina

Titel

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency

Ist Teil von

• International journal of molecular sciences, 2021-05, Vol.22 (9), p.4424

Ort / Verlag

Switzerland: MDPI AG

Erscheinungsjahr

2021

Link zum Volltext

Quelle

Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals

Beschreibungen/Notizen

• Mutations in lead to autosomal recessive complete congenital stationary night blindness (cCSNB). This condition represents a signal transmission defect from the photoreceptors to the ON-bipolar cells. To confirm the phenotype, better understand the pathogenic mechanism in vivo, and provide a model for therapeutic approaches, a knock-out mouse model was genetically and functionally characterized. We confirmed that the insertion of a neo/lac Z cassette in intron 1 of disrupts the same gene. Spectral domain optical coherence tomography reveals no obvious retinal structure abnormalities. knock-out mice exhibit a so-called no-b-wave ( ) phenotype with severely reduced b-wave amplitudes in the electroretinogram. Optomotor tests reveal decreased optomotor responses under scotopic conditions. Consistent with the genetic disruption of , GPR179 is absent at the dendritic tips of ON-bipolar cells. While proteins of the same signal transmission cascade (GRM6, LRIT3, and TRPM1) are correctly localized, other proteins (RGS7, RGS11, and GNB5) known to regulate GRM6 are absent at the dendritic tips of ON-bipolar cells. These results add a new model of cCSNB, which is important to better understand the role of GPR179, its implication in patients with cCSNB, and its use for the development of therapies.