Genomic Feature
s552
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 6: 10260854 (GRCz11) (1) Details
- Nucleotide change
- A/C
- Variant Notes
-
A T-to-G mutation results in the amino acid change M1208R.
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>G (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Met>Arg at position 1208 (1)
- Flanking Sequence
-
ATTTTTGATGTTTTACAATGTGGTCAGCCTGCTGGTTTTCATCATCACATGATCTCTTATAATAAAATCGCATAAGTTTTCATGGGCATTTTCAAAATATCCAAAATGCGTATAAACATAGGTAGATGGAAACATAGCTAGTGACTTGCCTAATTACCCTATCTTGCCTAATTAACCCTGTTAGACTTAAAATGTCACTTTAAGCTGAACACGAGTATCTTGAGTAAAAGTAAAATATGATGTACTGTCATAATGGCAGAGATAAAAGAAATCAATTAGAAATTAGGTCTTAAAACTGTTATGATTAGAAATGTGTTGGAAAAAAAATCTCTCTGTTAGACAGAAATTGGGGGGAACAATAATAATTCTGACATCAACTGTACACATCAACACATTTCAACAGCTAGTAACAGAGATCGGGCCGGTTGTGAGTGGGTGGTTGTATTGTGTTTGTTATGGTTGTGTGGGTGCTCACCAGTGCTCCGCTGCTGAGTAAAATC
A/C TGAAGATGATGAAGGACTCAAACCAGTTGTGCTCTACTATGATAAAGCAGGTTTTCCTGAGAATCCACCAACTCTTCCATTTTCCCTTCTCCACATCGACCTGACAGCACTGAAACCTCATCACACAGCCTGAGCAAAAGAAACACAGAAACAAGTCCCTTAATGTGAACAGACAGTAGAAAAATTGAGCTCAGTGGAAAGTCTACTCCTTAAAGTAGTCCCAGAAATGTAATACTAGAAGTCTTGCTGTGGCACTACATATGACATAAAGGGGCCAGTTTGTACATTTTGTTAGTCAAACTATGCACAACATTGCATTATTGCAATATTTTCCCAAAAAATATCTTTTACATCTCTGATATACATACAATACACTGACAGAATCATAATTATATCATTTTACATTCATTTGGTGTAGTAAAAGTTCAATCATTTTTAAATAGTTACAATTTTTGAGGTCTTGCATTTTTTTAAACTAAGAGCAAATCTGACGATGAGCC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| scn1labs552/s552 | Homozygous | ♀+/- ♂+/- | 23 figures  from 8 publications | 3 figures from 2 publications | |
| scn1labs552/s552 | Homozygous | Unknown | 4 figures from 3 publications | ||
| scn1labs552/s552 (TL) | Homozygous | ♀+/- ♂+/- | 10 figures from 3 publications | ||
| scn1labs552 | Unknown | Unknown | |||
| scn1labs552/s552; ot1Tg | Complex | Fig. 6 from Grone et al., 2017 |
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Supplemental Information
- Genotyping protocol
- None
- Brenet, A., Somkhit, J., Csaba, Z., Ciura, S., Kabashi, E., Yanicostas, C., Soussi-Yanicostas, N. (2024) Microglia Mitigate Neuronal Activation in a Zebrafish Model of Dravet Syndrome. Cells. 13(8):
- Whyte-Fagundes, P.A., Vance, A., Carroll, A., Figueroa, F., Manukyan, C., Baraban, S.C. (2024) Testing of putative antiseizure medications in a preclinical Dravet syndrome zebrafish model. Brain communications. 6:fcae135fcae135
- Martins, T.G., Soliman, R., Cordero-Maldonado, M.L., Donato, C., Ameli, C., Mombaerts, L., Skupin, A., Peri, F., Crawford, A.D. (2023) Seizure-induced increase in microglial cell population in the developing zebrafish brain. Epilepsy Research. 195:107203107203
- Sri Hari, A., Banerji, R., Liang, L.P., Fulton, R.E., Huynh, C.Q., Fabisiak, T., McElroy, P.B., Roede, J.R., Patel, M. (2023) Increasing glutathione levels by a novel posttranslational mechanism inhibits neuronal hyperexcitability. Redox Biology. 67:102895102895
- Weinschutz Mendes, H., Neelakantan, U., Liu, Y., Fitzpatrick, S.E., Chen, T., Wu, W., Pruitt, A., Jin, D.S., Jamadagni, P., Carlson, M., Lacadie, C.M., Enriquez, K.D., Li, N., Zhao, D., Ijaz, S., Sakai, C., Szi, C., Rooney, B., Ghosh, M., Nwabudike, I., Gorodezky, A., Chowdhury, S., Zaheer, M., McLaughlin, S., Fernandez, J.M., Wu, J., Eilbott, J.A., Vander Wyk, B., Rihel, J., Papademetris, X., Wang, Z., Hoffman, E.J. (2023) High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways. Cell Reports. 42:112243112243
- Myren-Svelstad, S., Jamali, A., Ophus, S.S., D'gama, P.P., Ostenrath, A.M., Mutlu, A.K., Hoffshagen, H.H., Hotz, A.L., Neuhauss, S.C.F., Jurisch-Yaksi, N., Yaksi, E. (2022) Elevated photic response is followed by a rapid decay and depressed state in ictogenic networks. Epilepsia. 63:2543-2560
- Banerji, R., Huynh, C., Figueroa, F., Dinday, M.T., Baraban, S.C., Patel, M. (2021) Enhancing glucose metabolism via gluconeogenesis is therapeutic in a zebrafish model of Dravet syndrome. Brain communications. 3:fcab004
- Griffin, A., Carpenter, C., Liu, J., Paterno, R., Grone, B., Hamling, K., Moog, M., Dinday, M.T., Figueroa, F., Anvar, M., Ononuju, C., Qu, T., Baraban, S.C. (2021) Phenotypic analysis of catastrophic childhood epilepsy genes. Communications biology. 4:680
- Li, J., Nelis, M., Sourbron, J., Copmans, D., Lagae, L., Cabooter, D., de Witte, P.A.M. (2021) Efficacy of Fenfluramine and Norfenfluramine Enantiomers and Various Antiepileptic Drugs in a Zebrafish Model of Dravet Syndrome. Neurochemical research. 46(9):2249-2261
- Sturgeon, M.L., Langton, R., Sharma, S., Cornell, R.A., Glykys, J., Bassuk, A.G. (2021) The opioid antagonist naltrexone decreases seizure-like activity in genetic and chemically induced epilepsy models. Epilepsia open. 6:528-538
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