Genomic Feature
w38
- ID
- ZDB-ALT-080903-12
- Name
- w38
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- David Raible Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 23: 2216374 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- None
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Amino Acid Substitution: Trp>Stop at position 628 (1)
- Flanking Sequence
-
TTTTCCAGTTGTCTTTTGTTTTTAACAGAAGAAAGAAACACTTAAAGGTTTGATCCGAGTAATGGGTGAGTAAATGATGACCAAATACATTTTTTGTGTGTGAACTCTCCCTTTAATTCAGCCTGTCATCTCCTCCTGTATTGTCAGACACACTCGACAGTTGCGTGATGTGGAGCAGGAGAAGGATAGAGCTCTCCTCAAAAACATCATCCGACTGTGGAAGGAGCTGAAAGCACTGAGAGACTTCCAGAGATTCACCAACACACCTTACAAACTCTTCATCAGGAGGTATGTCTTCTTGCGTGTGTGTTTGAATGATTGATTGTGTGCTTTGTTTTACGAGACTCTCGGCTGTTCCTACACAGGGAAAAGGTGGAGAGACTGCAGGACGAGCAGGAGTTTGAGAGCGACATCATGGCGGAGGTGTCAGAGCTGCAGGCGGAGACGGAGGAGGAATATCAGAGGAAGATGAATGAATACAGGAGACTGCATGAGGAATG
G/A AAATCCTGGAAAAGAAAACAGGTACGGCTATGCAGACGAAGCAGTGGGGTATATGCACAGCTAGTGTTTTTAGCCAACGATAAACGTCCAGTGAAAGGTTTACATGACTATTTTCAATTTTATAAGGTGCCTTTTACAACATCGATGTTGTAATGTCATTAAAGAAGATGCCCACTAATACCCACGCACACTGGATTAATTAGGGCTGAGGCTATTAACTCCTGGCCGTTCACATATTGCGTCTTTTGCTCGCACAAATTCATTATTTTCAATGGAGGCGCACGACTTGCACATGCATATTAGGATCGAAAGCGCACTATCCACTCACGCTTTCCAGGCGCACCTAGTTGAAAGATTGTTGAAAGCGCACTACAAGTCATGTGACCAGAACTGACTTCACAGAAAAAAAAATACAAAGAGAAAGCACCAAGCACCAAATTTTCTAATATAGTTGATCTAAAGTGCCTTTCAGACAGAGGTTCAGCAGCCTTTCACTACAT - Additional Sequence
- None
Fish
from 3 publications1 - 10 of 19
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Supplemental Information
- Genotyping protocol
- None
- Mytlis, A., Kumar, V., Qiu, T., Deis, R., Hart, N., Levy, K., Masek, M., Shawahny, A., Ahmad, A., Eitan, H., Nather, F., Adar-Levor, S., Birnbaum, R.Y., Elia, N., Bachmann-Gagescu, R., Roy, S., Elkouby, Y.M. (2022) Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium. Science (New York, N.Y.). 376(6599):eabh3104
- Schmid, C., Alampi, I., Briggs, J., Tarcza, K., Stawicki, T.M. (2020) Mechanotransduction Activity Facilitates Hair Cell Toxicity Caused by the Heavy Metal Cadmium. Frontiers in Cellular Neuroscience. 14:37
- Lessieur, E.M., Song, P., Nivar, G.C., Piccillo, E.M., Fogerty, J., Rozic, R., Perkins, B.D. (2019) Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. PLoS One. 14:e0213960
- Ojeda Naharros, I., Gesemann, M., Mateos, J.M., Barmettler, G., Forbes, A., Ziegler, U., Neuhauss, S.C.F., Bachmann-Gagescu, R. (2017) Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. PLoS Genetics. 13:e1007150
- Stawicki, T.M., Hernandez, L., Esterberg, R., Linbo, T., Owens, K.N., Shah, A.N., Thapa, N., Roberts, B., Moens, C.B., Rubel, E.W., Raible, D.W. (2016) Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish. G3 (Bethesda). 6(7):2225-35
- Bachmann-Gagescu, R., Dona, M., Hetterschijt, L., Tonnaer, E., Peters, T., de Vrieze, E., Mans, D.A., van Beersum, S.E., Phelps, I.G., Arts, H.H., Keunen, J.E., Ueffing, M., Roepman, R., Boldt, K., Doherty, D., Moens, C.B., Neuhauss, S.C., Kremer, H., van Wijk, E. (2015) The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking. PLoS Genetics. 11:e1005575
- Bachmann-Gagescu, R., Phelps, I.G., Stearns, G., Link, B.A., Brockerhoff, S.E., Moens, C.B., and Doherty, D. (2011) The Ciliopathy Gene cc2d2a controls Zebrafish Photoreceptor Outer Segment Development Through a Role in Rab8-dependent Vesicle Trafficking. Human molecular genetics. 20(20):4041-55
- Owens, K.N., Coffin, A.B., Hong, L.S., Bennett, K.O., Rubel, E.W., and Raible, D.W. (2009) Response of mechanosensory hair cells of the zebrafish lateral line to aminoglycosides reveals distinct cell death pathways. Hearing Research. 253(1-2):32-41
- Gorden, N.T., Arts, H.H., Parisi, M.A., Coene, K.L., Letteboer, S.J., van Beersum, S.E., Mans, D.A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A.F., Ozyurek, H., Dibooglu, S., Otto, E.A., Liu, Y., Davis, E.E., Hutter, C.M., Bammler, T.K., Farin, F.M., Dorschner, M., Topçu, M., Zackai, E.H., Rosenthal, P., Owens, K.N., Katsanis, N., Vincent, J.B., Hildebrandt, F., Rubel, E.W., Raible, D.W., Knoers, N.V., Chance, P.F., Roepman, R., Moens, C.B., Glass, I.A., and Doherty, D. (2008) CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290. American journal of human genetics. 83(5):559-571
- Owens, K.N., Santos, F., Roberts, B., Linbo, T., Coffin, A.B., Knisely, A.J., Simon, J.A., Rubel, E.W., and Raible, D.W. (2008) Identification of genetic and chemical modulators of zebrafish mechanosensory hair cell death. PLoS Genetics. 4(2):e1000020
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