Genomic Feature
udm102
- ID
- ZDB-ALT-190107-2
- Name
- udm102
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Pierre Drapeau Lab
- Current Source
- Other Pages
Notes
| Comment | Citation |
|---|---|
| Homozygous larvae typically die between 10 and 14 dpf. If separated early and ... | Swaminathan et al., 2018 |
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 10: 17213911 - 17213914 (GRCz11) (1) Details
- Nucleotide change
- AATC/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 4 bp deleted in Exon 14 (1)
- Transcript Consequence
- Frameshift (1)
- Protein Consequence
- Polypeptide Truncation: 1216 AA missing (1)
- Flanking Sequence
-
CATCCGCTGTGTAAAATATATGCTGGAAAAGTTGGCGGTTCATTCCACTGTGGTGACCCCTGATGAATAAAGGGACAACGCTGAAGGTAAATGAAGGAATGAAACCAAATTTTTTTTTTTTTATGTGAAAAGTCCCATCCCTAATTATAACTAATCGCACATAACTTACTAAAGAGAAAATGATAAATGCTGGACAAGGATCTTTCTTTAACACATGCGCTTGCAAACACCATCAAATAGCTATTTGTTTACAAAGGCAGTTCATTAAATCATGTGGCTAAAAACAAAGTACATTTTGGGCTTTAATGTGAAGTACACTAACCTTGAAGAGTGGAACAGCGTGAAGGGGCTGTTCTCCCATACACACCAGATCAACACCAATGCCTATCAGAAACATACCATTTCATCAGCATTAACCTCAAGAAATAAGATCAGCAGTGTCTGAAGTGCACGCTCACTGACCGTTGTCAATCATGCGCTGTTTGGTGAGGATCATGAGC
AATC/- GGTCGACTTCAAAAACACCCACTCCTGGAGTTATGACCACTGACATTTGACCAGTGCGGTCAAAGTTACGGTTGATGTAGTGCTTATCAAACACTAAAAGAGACAAACAGGACACCGATCATGCAATAACAGCTCTACTGAAGAATGTAAACTAAATACACAAAAACAAACCATTGAAAGACAAGTTGATTGCTTCCAGGTAATTTCCTTGAGCAGAAGTGGAGTTGTGTCCACATGGAAATCCATCTGTAATATTGATGTAAATGTGTAAGTCTTGGTAATAAAGTCTTGGAATTTTTAAATAATCAAGTAACAATGGAATAAATTGCTATGGTGTTCATCATTCAAAAGTAAAATTACTTAGTTAAAAGTTAAAGACTGTAAATAAATACTCTAAGTGAGGATGCATAAAATTAGTAATAAAAGTGGCTGAGAGATTTTTAATGTGACAAAATATTTCTCTTTAACAAAATTTGTATACAGCAAAGAATCCTGCTTAC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| depdc5udm102/udm102 (TL) | Homozygous | ♀+/- ♂+/- | 7 figures  from Swaminathan et al., 2018 | 3 figures from Swaminathan et al., 2018 | |
| depdc5udm102/+ (TL) | Heterozygous | ♀+/- ♂+/- | Fig. 2 from Swaminathan et al., 2018 | Fig. 1 from Swaminathan et al., 2018 |
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Supplemental Information
- Genotyping protocol
- None
- De Meulemeester, A.S., Heylen, L., Siekierska, A., Mills, J.D., Romagnolo, A., Van Der Wel, N.N., Aronica, E., de Witte, P.A.M. (2022) Hyperactivation of mTORC1 in a double hit mutant zebrafish model of tuberous sclerosis complex causes increased seizure susceptibility and neurodevelopmental abnormalities. Frontiers in cell and developmental biology. 10:952832
- Swaminathan, A., Hassan-Abdi, R., Renault, S., Siekierska, A., Riché, R., Liao, M., de Witte, P.A.M., Yanicostas, C., Soussi-Yanicostas, N., Drapeau, P., Samarut, É. (2018) Non-canonical mTOR-Independent Role of DEPDC5 in Regulating GABAergic Network Development. Current biology : CB. 28(12):1924-1937.e5
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