Genetic and Neurological Deficiencies in the Visual System of mct8 Mutant Zebrafish

Rotem Rozenblat, Adi Tovin, David Zada, Ilana Lebenthal-Loinger, Tali Lerer-Goldshtein, Lior Appelbaum

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Thyroid hormones (THs; T3 and T4) enter cells using specific transporters and regulate development and metabolism. Mutation in the TH transporter monocarboxylate transporter 8 (MCT8, SLC16A2) is associated with brain hypothyroidism and neurological impairment. We established mct8 mutant (mct8−/−) zebrafish as a model for MCT8 deficiency, which causes endocrinological, neurological, and behavioral alterations. Here, we profiled the transcriptome of mct8−/− larvae. Among hundreds of differentially expressed genes, the expression of a cluster of vision-related genes was distinct. Specifically, the expression of the opsin 1 medium wave sensitive 2 (opn1mw2) decreased in two mct8 mutants: mct8−/− and mct8−25bp−/− larvae, and under pharmacological inhibition of TH production. Optokinetic reflex (OKR) assays showed a reduction in the number of conjugated eye movements, and live imaging of genetically encoded Ca2+ indicator revealed altered neuronal activity in the pretectum area of mct8−25bp−/− larvae. These results imply that MCT8 and THs regulate the development of the visual system and suggest a mechanism to the deficiencies observed in the visual system of MCT8-deficiency patients.

Original languageEnglish
Article number2464
JournalInternational Journal of Molecular Sciences
Issue number5
StatePublished - 1 Mar 2022

Bibliographical note

Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.


  • Monocarboxylate transporter 8
  • OKR
  • Opsin
  • Pretectum
  • Thyroid hormones
  • Zebrafish


Dive into the research topics of 'Genetic and Neurological Deficiencies in the Visual System of mct8 Mutant Zebrafish'. Together they form a unique fingerprint.

Cite this