@article{oai:oist.repo.nii.ac.jp:00001657,
 author = {Deveau, Ciana and Jiao, Xiaodong and Suzuki, Sachihiro C. and Krishnakumar, Asha and Yoshimatsu, Takeshi and Hejtmancik, J Fielding and Nelson, Ralph F.},
 issue = {6},
 journal = {PLOS Genetics},
 month = {Jun},
 note = {We investigate mutations in trbeta2, a splice variant of thrb, identifying changes in function, structure, and behavior in larval and adult zebrafish retinas. Two N-terminus CRISPR mutants were identified. The first is a 6BP+1 insertion deletion frameshift resulting in a truncated protein. The second is a 3BP in frame deletion with intact binding domains. ERG recordings of isolated cone signals showed that the 6BP+1 mutants did not respond to red wavelengths of light while the 3BP mutants did respond. 6BP+1 mutants lacked optomotor and optokinetic responses to red/black and green/black contrasts. Both larval and adult 6BP+1 mutants exhibit a loss of red-cone contribution to the ERG and an increase in UV-cone contribution. Transgenic reporters show loss of cone trbeta2 activation in the 6BP+1 mutant but increase in the density of cones with active blue, green, and UV opsin genes. Antibody reactivity for red-cone LWS1 and LWS2 opsin was absent in the 6BP+1 mutant, as was reactivity for arrestin3a. Our results confirm a critical role for trbeta2 in long-wavelength cone development.},
 title = {Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish)},
 volume = {16},
 year = {2020}
}