Genomic Feature
hu2117
- ID
- ZDB-ALT-090611-1
- Name
- hu2117
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- ENU
- Lab of Origin
- Hubrecht Institute
- Current Source
- Other Pages
Notes
| Comment | Citation |
|---|---|
| Homozygotes typically die on or before day 13 due to cardiac or renal failure ( ... | Ward et al., 2019 |
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 6: 40454749 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Gln>Stop at position 23 (1)
- Flanking Sequence
-
TGCTTTACTCGTTACTTAGAAAAGTAATATTATTAGATAACTCGCGTTACTTGTATCCATTACCCCAACACTGGTTATATTGTTTATTATAAGTATGACTTCAAAACAGCATAATCATCATTTAATTGACTGGGAACAATGTTGTTATTTGATAATCATTGACTGTTAATATGATTTAGAATTCGCAAATAATACTTTTCTGAAACTGATTATGAATGTCTGAATATAAATTTAAAGCCAAATTTACCTTATTGCTATTTGTTGTATTGTTTAAAATACTTGTTTTTATCTATTTCAAGAACGAGTTAAACGCGTAGATAGCAATTTCACCAATTTAATTAATCAACATAATTCAGCATAATTTCACGAACCCACAAAAGTTGTTATTCTTCGTCCGGTGTACGGCTGAATGTTCACGTACGGCTGCGGCTCTCCGAGGAAGTTGATCCAGACGGGCTTGACGACGCGCGGGCTGCAGTTACAGAACAGAACGTTGACCT
G/A TATCCGGCTGATCAGAGACCGGACCAGCGGGAGCGGCTGCTGCCCCTCCTGAGAGTCCTGGGGCATCGTCAAAGACAGGACAGTTCCTGCTTCCACCGAGTTAGACTAAAGCTTCAACGTTAATCGTTTTTAAAAAGCCCAACAAAACATAAATACACAAACTAGAAATGTTAAAGCTCTCTTTTAATTATAATGAACATGCGCTAAGCCCTTAAGAAGCAATGATCTGATTTAACCTGAAAAATAACACGAACGGAGAGAAAGACTGTGTACGTGACTGTCACACATACGTCCGTGCTGCTGGCTGCGTTTGTTTTGATTGCGTAATCTTGTGAGAGTCGGTGAAGAAGACAGAATGATAACAGCTCCCTCTAGTGCTTTGGTTGGTATTGAAAACGCGCGCGCGTGTGTGTATGTTTGTGTGTGTGTGAGAGAGAGAGACTACTACTACTTGCTGTTTTTTTAATTATATGTGTGTGTATGTTTTTTTTTTAATGTAA - Additional Sequence
- None
Fish
from 6 publications1 - 10 of 35
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Supplemental Information
- Genotyping protocol
- None
- Do, T.C., Lau, J.W., Sun, C., Liu, S., Kha, K.T., Lim, S.T., Oon, Y.Y., Kwan, Y.P., Ma, J.J., Mu, Y., Liu, X., Carney, T.J., Wang, X., Xing, B. (2022) Hypoxia deactivates epigenetic feedbacks via enzyme-derived clicking proteolysis-targeting chimeras. Science advances. 8:eabq2216
- Kim, H.R., Santhakumar, K., Markham, E., Baldera, D., Greenald, D., Bryant, H.E., El-Khamisy, S.F., van Eeden, F.J. (2020) Investigation of the role of VHL-HIF signaling in DNA repair and apoptosis in zebrafish. Oncotarget. 11:1109-1130
- Klems, A., van Rijssel, J., Ramms, A.S., Wild, R., Hammer, J., Merkel, M., Derenbach, L., Préau, L., Hinkel, R., Suarez-Martinez, I., Schulte-Merker, S., Vidal, R., Sauer, S., Kivelä, R., Alitalo, K., Kupatt, C., van Buul, J.D., le Noble, F. (2020) The GEF Trio controls endothelial cell size and arterial remodeling downstream of Vegf signaling in both zebrafish and cell models. Nature communications. 11:5319
- Lei, Z., Klasson, T.D., Brandt, M.M., van de Hoek, G., Logister, I., Cheng, C., Doevendans, P.A., Sluijter, J.P.G., Giles, R.H. (2020) Control of Angiogenesis via a VHL/miR-212/132 Axis. Cells. 9(4):
- Marchi, D., Santhakumar, K., Markham, E., Li, N., Storbeck, K.H., Krone, N., Cunliffe, V.T., van Eeden, F.J.M. (2020) Bidirectional crosstalk between Hypoxia-Inducible Factor and glucocorticoid signalling in zebrafish larvae. PLoS Genetics. 16:e1008757
- Ratnayake, R., Gunasekera, S.P., Ma, J.J., Dang, L.H., Carney, T., Paul, V.J., Luesch, H. (2020) Dolastatin 15 from a Marine Cyanobacterium Suppresses HIF-1α Mediated Cancer Cell Viability and Vascularization. Chembiochem : a European journal of chemical biology. 21(16):2356-2366
- Ward, R., Ali, Z., Slater, K., Reynolds, A.L., Jensen, L.D., Kennedy, B.N. (2019) Pharmacological restoration of visual function in a zebrafish model of von-Hippel Lindau disease. Developmental Biology. 457(2):226-234
- Gooskens, S.L., Klasson, T.D., Gremmels, H., Logister, I., Pieters, R., Perlman, E.J., Giles, R.H., van den Heuvel-Eibrink, M.M. (2018) TCF21 hypermethylation regulates renal tumor cell clonogenic proliferation and migration. Molecular Oncology. 12:166-179
- Greenhough, A., Bagley, C., Heesom, K.J., Gurevich, D.B., Gay, D., Bond, M., Collard, T.J., Paraskeva, C., Martin, P., Sansom, O.J., Malik, K., Williams, A.C. (2018) Cancer cell adaptation to hypoxia involves a HIF-GPRC5A-YAP axis. EMBO Molecular Medicine. 10(11):
- van Rooijen, E., van de Hoek, G., Logister, I., Ajzenberg, H., Knoers, N.V.A.M., van Eeden, F., Voest, E.E., Schulte-Merker, S., Giles, R.H. (2018) The von Hippel-Lindau Gene Is Required to Maintain Renal Proximal Tubule and Glomerulus Integrity in Zebrafish Larvae. Nephron. 138(4):310-323
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