Genomic Feature
zh510
- ID
- ZDB-ALT-210223-11
- Name
- zh510
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one delins (1)
- Protocol
- embryos treated with
- Lab of Origin
- Bachmann Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Delins
- Variant Location
- Chr 17: 645504 - 645920 (GRCz11) (1) Details
- Nucleotide change
- AGCTCTGGTCATCGGCAGCCTGTTCCCGGTACACACACACACACACACTCATCACATGCTCTGAAGAAACACTCTAGCAGCTTCTGGAAATCAATAGAGGTGCTCTTTCTTCCTCACTGGAGCTTTAATCCCGCTAATGACTGAAAGTGTAACGAGCATAGATGTAGAATATATAGACTGCTGCAGTATGGGAAGCTCCCGTCTGCATGATCTTCTAATAATTCAATGTTTAAATACCAATTCTTTACATACATGTGGAGTGTAACAGATGTTGATGCTGTTTTACATGCTGAAAAGCCCAACACACATAACACCTGCAGGTTTGAGCTGATGCTGTGTGTGTTGTGCTGCAGGTGTTTGACTGTCTGAAGGCGCGTCTGCAGGAGTCTAACAGTAAGGTGAATCTGCGCGCTCTGG/TGTGAGGAAA
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 10 bp inserted / 417 bp deleted in Exon 23 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
ACAGAGGGTGTGTACATGTGGGTGTGTCTGTTAGTCAGTGGGTGTGTCTTGACAGAGGGTGTGTTTATGTGGGTGTGTCAGTCAGTCAGTGGGTGTGTCAGGACAGATAATGTGTATATATGGGTGTGTCTGTTTAGTCAGTGGGTGTGTCAGAGACAGAGGGTGGTTTATGTGGGTGTGTCTGTTGTCAGTGGGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNACACACACACACAGACTCACTCTCACACACACACACTCATGAGTGTGTGTCCAGCAGGGATCCGTCTCTCAGTAAAGCGTGCGCTCACAGTCTGGCAGAGCGCAGCGAGTACGTCAAGCAGATGAAGACGCTCCTCAACTCCAGAGACTTCAGGGAGAGGATGAAGGCCATCGATCAGCTGGTGTGTGACTGTGAGGAAAACCC
AGCTCTGGTCATCGGCAGCCTGTTCCCGGTACACACACACACACACACTCATCACATGCTCTGAAGAAACACTCTAGCAGCTTCTGGAAATCAATAGAGGTGCTCTTTCTTCCTCACTGGAGCTTTAATCCCGCTAATGACTGAAAGTGTAACGAGCATAGATGTAGAATATATAGACTGCTGCAGTATGGGAAGCTCCCGTCTGCATGATCTTCTAATAATTCAATGTTTAAATACCAATTCTTTACATACATGTGGAGTGTAACAGATGTTGATGCTGTTTTACATGCTGAAAAGCCCAACACACATAACACCTGCAGGTTTGAGCTGATGCTGTGTGTGTTGTGCTGCAGGTGTTTGACTGTCTGAAGGCGCGTCTGCAGGAGTCTAACAGTAAGGTGAATCTGCGCGCTCTGG/TGTGAGGAAA AGGCTCTGCACTCCATCATCACTCTGCTCAGAGATCATCTTTCTCCAGTGCTCAACATCCTCATCCCGGCGCTCGTGGACAATCACCTCAACTCCAAAAACACACTCGTCTACACGGCGGCGCTGGCGGCACTGCAGGCCCTCACACACAACATCGGTCAGTGCTACACAACTACATCATTCACCACAGCTATCAGTGCTTAAAGGCAGGACTATCTATCAGTCATTTAGGGCGGGGCTATCAGTCATTTAGGGCGGGGCTATCAGTCATTTAGGGCGGGGCTATCAGTCATTTAGGGTGGGGGTATTAGTAATTTAGGGTGGGGCTATCAGTCATTTAGGGCGGGGCTATCAGTCATTTAGGACGGGGCTATCAGTCATTTAGGGCGGGGCTATTAGTCATTTAGGGTGGGGCTATCACTATTTTAGGGTGGGGTTATCAGTGATTTAGGGCAGGGCTATCAGTGATTTAGGGCAGGGCTATCAGTGATTTAGGGCGGG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| togaram1zh510/zh510 | Homozygous | ♀+/- ♂+/- | Fig. 4 from Latour et al., 2020 | Fig. 4 from Latour et al., 2020 |
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Supplemental Information
- Genotyping protocol
- None
- Noble, A.R., Masek, M., Hofmann, C., Cuoco, A., Rusterholz, T.D.S., Özkoc, H., Greter, N.R., Phelps, I.G., Vladimirov, N., Kollmorgen, S., Stoeckli, E., Bachmann-Gagescu, R. (2024) Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. Biology Open. 13(11):
- Latour, B.L., Van De Weghe, J.C., Rusterholz, T.D., Letteboer, S.J., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., Chitre, M., Grout, M.E., van Reeuwijk, J., van Beersum, S.E., Miller, C.V., Dempsey, J.C., Morsy, H., Bamshad, M.J., Nickerson, D.A., Neuhauss, S.C., Boldt, K., Ueffing, M., Keramatipour, M., Sayer, J.A., Alkuraya, F.S., Bachmann-Gagescu, R., Roepman, R., Doherty, D. (2020) Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. The Journal of Clinical Investigation. 130(8):4423-4439
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