Genomic Feature
s3001
- ID
- ZDB-ALT-150721-10
- Name
- s3001
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Baraban Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 5: 28973294 - 28973305 (GRCz11) (1) Details
- Nucleotide change
- CTCAGGATGGCA/-
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 12 bp deleted (1)
- Transcript Consequence
- Start Loss (1)
- Protein Consequence
- None
- Flanking Sequence
-
GTAAAATAACGGGTTATCATACTGTAGATGGCTGTCTTACATACATATTCATTTAAATAATCCAAACGAGCAAAGCATCTCTGAATGGCCACTTAAACGCGGCAGGATAACAAGTCGATGTCTCCCTCTAGTGGGCACCAAGTGGTCTTTTCGCGCATCTTACAGGCGCACCTATTATTAAACAGATTGCAACCATTCTCACCCAAACGTCACTATTTTCATCACGTTAATTTCATATCCTATGCAAATTCGTTGAGTTCACCTTGTTAAAGCATATGCTCCAAAACCACTTCAGGCGTGAAACATGATGAAATCTGCGTAGAAAGCTGAGCTTCATAGATGCACAAATGTGTGTATGTTTACAAGACACGCTGCATATGTCAACAAAGGAGCTGCGGAGGCGTGTGCTGGGATTAGCCATCGACGCAAGAGCCACATCCCATTTACACCAACTGTAGATCCGAGCGCGCGCACTCCGAGTCCGGCGGCGAGAGCGAGCA
CTCAGGATGGCA/- TCTCTGGGACTCAAGGCGATTGTCGGAGAAAGTAAGACATGTTTTCCTTAAGTTTATGTATGGCAGATATACGGCTGTTTTTGGACCGGACATGTTGAAAATTTGTAACGTGTGGAGTTAGTGCCATTTTCATTGACATTTGTACTTTGTGTAGTACTGTACATGTTAGCATGAAGGGTGTGTTAATGTATTATCAAATATTAGTTGGCCCATACTCACAAACAGTAGCCTATAAACCTCATACAACAATACAGCTCTACTTAAATTCTTATATTGAAATTGCTTAATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATAATGAGTGTCAGGCGCTACACATTACATAGAATAACTGATATTGCTAAAAGCACACAAGCATTTGAGATAGGCTACACACTAATCTGTGTAGTCCTGTGGGATTAGGGATCCAGATATGAGGGGCGGCTCATAGTCC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| stxbp1bs3001/s3001 | Homozygous | Unknown | 2 figures  from Moog et al., 2022 | ||
| stxbp1bs3001/s3001 (WIK) | Homozygous | ♀+/- ♂+/- | 5 figures from Grone et al., 2016 | ||
| stxbp1bs3001/+ | Heterozygous | Unknown | Fig. 6 from Grone et al., 2016 | ||
| stxbp1bs3001/+ (AB) | Heterozygous | Unknown | |||
| mitfaw2/w2; stxbp1bs3001/s3001 | Complex | 5 figures from Liu et al., 2021 | |||
| mitfaw2/w2; stxbp1bs3001/s3001; icm05Tg | Complex | ||||
| stxbp1as3000/+; stxbp1bs3001/+ | Complex | Fig. 7 from Grone et al., 2016 |
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Supplemental Information
- Genotyping protocol
- None
- Moog, M., Baraban, S.C. (2022) Clemizole and Trazodone are Effective Antiseizure Treatments in a Zebrafish Model of STXBP1 Disorder. Epilepsia open. 7(3):504-511
- 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
- Liu, J., Salvati, K.A., Baraban, S.C. (2021) In vivo calcium imaging reveals disordered interictal network dynamics in epileptic stxbp1b zebrafish. iScience. 24:102558
- Grone, B.P., Marchese, M., Hamling, K.R., Kumar, M.G., Krasniak, C.S., Sicca, F., Santorelli, F.M., Patel, M., Baraban, S.C. (2016) Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish. PLoS One. 11:e0151148
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