Genomic Feature
ot101
- ID
- ZDB-ALT-181019-1
- Name
- ot101
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Marc Ekker Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 23: 33963721 - 33963724 (GRCz11) (1) Details
- Nucleotide change
- TCAA/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 4 bp deleted (1)
- Transcript Consequence
- None
- Protein Consequence
- None
- Flanking Sequence
-
ATTTAAGACTTGTTGGATTTGTGGGCGTCACGGTGGCTCAGTGGTTAGCACTGTCACCTTATAGCAAGAAGGTCGGTGGTTTGAGTCCCGGCTTCGCGAGGGTTTCCTCCAGGTGCTCTGGGTTCTCCCACAGTCCAGATGGCGAATTGAATAGTGTGTGAATGAGTGTGTATGTGTGTTTTCCAGTACTGGGTTGCAGCTGGAAGGGCATCCAGTGTGTAAAACATGCTTGAATAGTTGGCGCTTCATTCCGCTGTGGCGACCCTTGACAAATGAAGGGACTAAGTCGAAAGAAAATGAATGAATCTATTTAAAAGTAAAAAAAAATCTGTCCGCGAAAGCTTTTAAACGAGGCGTGACTTTTATTTTGTCAGAGAGCTGACCGGATGTGCAAGTGACGTCAGGCGGCTGGTGTATGCGCGCACTCTGGCTATGTGGAGAGTAGTGATGATGTCGGAGGAGGTTGGTAAGAAAGTGCAGGCGGTGGTGGAGCGGGTGAA
TCAA/- GCGGTTTCCCGACGCCCGAAGGTCAGTTTTCCGTCGCTTGTATTCAAGTCATACACGAGACAACGCTATACTTTACAAATACCTTGAAAGGCGAACTCTCCACTCGTGCTTACCGTGTTGTTATGGCAGGGTTATATAATCTGTTCAACCTTTACACACAGATATAGCAACGAGGGATGAGTGACAGCTGATGATATACCGAATAACTAAGTAACACTTTTAACAATACAAATTATACATAAGACATAATGATTGTGGGAGATGATGTTTGAACAGCGTGTGTTCAGGGAGAAGGACACTGGATAAATGAAAGCATGTTGCGTGAAATATCTGATTCCCAGCAGTCACGCTTCTGCAAATATACACGACACGCGGTAATTACACGCTCTTTAAGGTGTATGACAGTGACATTAGATCTTTAAATGACAAATTTCACCGTATAAACATCGAGCAAATATATTGACAAAATAATAAAATAAAAAGGTTTATGGTTGGTTGAA - Additional Sequence
- None
Fish
Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
---|---|---|---|---|---|
plpbpot101/+; plpbpot102/+ | Complex | 3 figures from Johnstone et al., 2019 | Fig. 4 from Johnstone et al., 2019 |
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Supplemental Information
- Genotyping protocol
- None
- Johnstone, D.L., Al-Shekaili, H.H., Tarailo-Graovac, M., Wolf, N.I., Ivy, A.S., Demarest, S., Roussel, Y., Ciapaite, J., van Roermund, C.W.T., Kernohan, K.D., Kosuta, C., Ban, K., Ito, Y., McBride, S., Al-Thihli, K., Abdelrahim, R.A., Koul, R., Al Futaisi, A., Haaxma, C.A., Olson, H., Sigurdardottir, L.Y., Arnold, G.L., Gerkes, E.H., Boon, M., Heiner-Fokkema, M.R., Noble, S., Bosma, M., Jans, J., Koolen, D.A., Kamsteeg, E.J., Drögemöller, B., Ross, C.J., Majewski, J., Cho, M.T., Begtrup, A., Wasserman, W.W., Bui, T., Brimble, E., Violante, S., Houten, S.M., Wevers, R.A., van Faassen, M., Kema, I.P., Lepage, N., Care4Rare Canada Consortium, Lines, M.A., Dyment, D.A., Wanders, R.J.A., Verhoeven-Duif, N., Ekker, M., Boycott, K.M., Friedman, J.M., Pena, I.A., van Karnebeek, C.D.M. (2019) PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights. Brain : a journal of neurology. 142(3):542-559
- Kosuta, C., Daniel, K., Johnstone, D.L., Mongeon, K., Ban, K., LeBlanc, S., MacLeod, S., Et-Tahiry, K., Ekker, M., MacKenzie, A., Pena, I. (2018) High-throughput DNA Extraction and Genotyping of 3dpf Zebrafish Larvae by Fin Clipping. Journal of visualized experiments : JoVE. (136):
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