Genomic Feature
hu255H
- ID
- ZDB-ALT-080916-1
- Name
- hu255H
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Hubrecht Institute
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 7: 29013701 (GRCz11) (1) Details
- Nucleotide change
- T/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Leu>Stop at position 88 (1)
- Flanking Sequence
-
AAAAGAGTACTGCAGATAAATATATGTACTCCTTTTACCCATTATTTGACAAAAAGGAAAGAAAAATGTAGTCTTATTTTATAGCTTTTCATGTAAAATGCCTAATGGAGAAATATTTTTCCTTTGAAAGATCTGGATTCTCAGAGTGCAGCTGCTGAAGTGTCAGAGAGTGACATAAAGCCTTCAGGCCCCAGGTGATGAAGTGCAGTTTTTTTAATAGTATCCAAATGACATTTGCTCAGATTCAGTTGCTTGAGAATAAAAAATACTGATTTATGTTTCCTGTATCCTCTTCAGAATTACCAAAGACTTCTTAAGGGAGCACTGCAAGAAAAACAAACTGTACCTGACACCAAGGCTGAATGACACACTTTATCTTCACTTTAAAGGTTTGAAATTGCTTAAACAAAAGAGACTAATTTTGCATCTTCATCTTTCTTTTCAACTTTTTTAATGAAACTGTTAATTCTCCATTGTAGGTTTTTCTTGTATAGAGGGTT
T/A GGAAGAATATACTGGCCTGCGCTGCCTATGGCTCGAGTGTAATGGTATTCGAAAGATTGAAAATCTGGAGAATCAGACAGAGCTTCGCTGTCTGTTCCTCCATCAGAATCTCATTCACACTCTGGAAAACCTGGAACCACTCAGCAAGCTTTGCACGCTTAATGTCTCAAACAATTATATCAAGGTCATTGAGAACATTTGTAAGTACTTAACTCATTGTCAAACTTTGGCCCCAGTCTTTCATTCTCATTTATTTACACATTAAGGTTTTGTTTTTCAGCTAGTTTGAGCGACTTGTCCACTCTACAGATCTCTCATAACACACTGGAGAATGTTTGTGACATGGAGGAGCTTTCACACTGTCCATCCATCAGTGTCCTTGATCTGTCCCACAACCGCATCAGTGATCCAGCGCTAGTTAATATTCTAGAGAAAATGCCTGACTTGGTAAATTACAGTGCATTTCTTTCCTCATTTATGCTTTCTTGTAAATTTTGATT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| dnaaf1hu255H/hu255H | Homozygous | ♀+/- ♂+/- | 2 figures  from 2 publications | Fig. 6 from Hartill et al., 2017 | |
| dnaaf1hu255H/hu255H (TL) | Homozygous | ♀+/- ♂+/- | 7 figures from van Rooijen et al., 2008 | Fig. S4 from van Rooijen et al., 2008 | |
| dnaaf1hu255H/+ | Heterozygous | Unknown | 5 figures from 2 publications | 2 figures from 2 publications | |
| dnaaf1hu255H/hu255H; spawt30973/t30973 | Complex | Fig. 3 from Noël et al., 2013 |
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Supplemental Information
- Genotyping protocol
- None
- Whitfield, T.T. (2020) Cilia in the developing zebrafish ear. Philosophical transactions of the Royal Society of London. Series B, Biological sciences. 375:20190163
- Zhang, X., Jia, S., Chen, Z., Chong, Y.L., Xie, H., Feng, D., Wu, X., Song, D.Z., Roy, S., Zhao, C. (2018) Cilia-driven cerebrospinal fluid flow directs expression of urotensin neuropeptides to straighten the vertebrate body axis. Nature Genetics. 50(12):1666-1673
- Hartill, V.L., van de Hoek, G., Patel, M.P., Little, R., Watson, C.M., Berry, I.R., Shoemark, A., Abdelmottaleb, D., Parkes, E., Bacchelli, C., Szymanska, K., Knoers, N.V., Scambler, P.J., Ueffing, M., Boldt, K., Yates, R., Winyard, P.J., Adler, B., Moya, E., Hattingh, L., Shenoy, A., Hogg, C., Sheridan, E., Roepman, R., Norris, D., Mitchison, H.M., Giles, R.H., Johnson, C.A. (2017) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human molecular genetics. 27(3):529-545
- Litchfield, K., Levy, M., Dudakia, D., Proszek, P., Shipley, C., Basten, S., Rapley, E., Bishop, D.T., Reid, A., Huddart, R., Broderick, P., Castro, D.G., O'Connor, S., Giles, R.H., Houlston, R.S., Turnbull, C. (2016) Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. Nature communications. 7:13840
- Basten, S.G., Davis, E.E., Gillis, A.J., van Rooijen, E., Stoop, H., Babala, N., Logister, I., Heath, Z.G., Jonges, T.N., Katsanis, N., Voest, E.E., van Eeden, F.J., Medema, R.H., Ketting, R.F., Schulte-Merker, S., Looijenga, L.H., and Giles, R.H. (2013) Mutations in LRRC50 Predispose Zebrafish and Humans to Seminomas. PLoS Genetics. 9(4):e1003384
- Noël, E.S., Verhoeven, M., Lagendijk, A.K., Tessadori, F., Smith, K., Choorapoikayil, S., den Hertog, J., and Bakkers, J. (2013) A Nodal-independent and tissue-intrinsic mechanism controls heart-looping chirality. Nature communications. 4:2754
- Stooke-Vaughan, G.A., Huang, P., Hammond, K.L., Schier, A.F., and Whitfield, T.T. (2012) The role of hair cells, cilia and ciliary motility in otolith formation in the zebrafish otic vesicle. Development (Cambridge, England). 139(10):1777-1787
- Smith, K.A., Noël, E., Thurlings, I., Rehmann, H., Chocron, S., and Bakkers, J. (2011) Bmp and Nodal Independently Regulate lefty1 Expression to Maintain Unilateral Nodal Activity during Left-Right Axis Specification in Zebrafish. PLoS Genetics. 7(9):e1002289
- van Rooijen, E., Giles, R.H., Voest, E.E., van Rooijen, C., Schulte-Merker, S., and van Eeden, F.J. (2008) LRRC50, a Conserved Ciliary Protein Implicated in Polycystic Kidney Disease. Journal of the American Society of Nephrology : JASN. 19(6):1128-1138
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