Genomic Feature
tt281
- ID
- ZDB-ALT-980203-1236
- Name
- tt281
- Synonyms
-
- AT81A (1)
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Nüsslein-Volhard Lab
- Current Source
- European Zebrafish Resource Center (EZRC) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 3: 23233009 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Glu>Lys at position 888 (1)
- Flanking Sequence
-
TGCCCCTGGACCTCAGGTGTGACCATAATTTCATATAATTTCCTCATGCTCCTTTTCAGATATGTGCTTTTCTGGACCTATAAATGTTATCCTACATCATAAGTCATGGTTTTCTTTAGTAATGTAGAAATGCAATTTTTTTAATCAAATTGACTTGTGCTATGCAGGGTCCCGTTGGTGCTACTGGACCCAAGGGTGCCCGTGGTGCTGCTGGTCCTCCTGTGAGTATGACAACCACAATTTCATGGCGTTTGTTAGCACTTATCACAATTTTCTTCTTTCGAAGATTCTTTACATATATATTTTTATTTAGGGTGCTACTGGCTTCCCTGGTGCTGCTGGCAGAGTTGGACCTCCTGGCCCTTCTGTAAGAACATCTACAATATTGATTTAGATATGCATAAACTGCTCTCTTGTACAATTAACAGTGAGTCACTTATTACTTGCTGTATTTTTAGGGAAATTCTGGACCCCCAGGACCTCCTGGACCCGCTGGTAAG
G/A AGGGCCAGAAAGGTAACCGTGGTGAGACTGGACCTGCTGGTCGTACTGGTGAAGTTGGTGCTGCTGGACCACCTGGTGCCCCTGGTGAGAAAGGAAATCCCGGAGCTGAGGGTGCCACTGTAAGTCATTCTGATCAATAATTATACTTACCTTCAGGCCTTGTCAAATACATCACTGTAAACAAAATTGTATAGAGCAAATTTCCAATATCGCCTTGCAAAATGATTCATATTGCTTAACACTTTCATTTTGAATGCTTTCATATTGGTAGAGAGTGATGTGTCATGTTATCCTTGGTTCAAAATCAACATTTTATCCCAAATCACAAAATGCAGATGAGCTTTAATATGGTTATTTTAAACAAGTCTGTGGATGTGATATTACTGGACTTTTGTGCTTGTTACAGAATAGATTATCTTCTAGAGAAAGTAAAGATATTACCCTTTGCTCCTCATCTTGATCTCCATGCTAGTATAAATGAGTGGATATTTATTTCAAAC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| col1a1att281/tt281 | Homozygous | ♀+/- ♂+/- | 8 figures from 3 publications | ||
| col1a1att281/+ | Heterozygous | ♀+/- ♂+/- | Fig. S1 from Asharani et al., 2012 | ||
| col1a1att281 | Unknown | Unknown | Fig. for (tt281) from Phenotype Annotation (1994-2006) |
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Supplemental Information
- Genotyping protocol
- None
- Gistelinck, C., Kwon, R.Y., Malfait, F., Symoens, S., Harris, M.P., Henke, K., Hawkins, M.B., Fisher, S., Sips, P., Guillemyn, B., Bek, J.W., Vermassen, P., De Saffel, H., Witten, P.E., Weis, M., De Paepe, A., Eyre, D.R., Willaert, A., Coucke, P.J. (2018) Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies. Proceedings of the National Academy of Sciences of the United States of America. 115(34):E8037-E8046
- Asharani, P.V., Keupp, K., Semler, O., Wang, W., Li, Y., Thiele, H., Yigit, G., Pohl, E., Becker, J., Frommolt, P., Sonntag, C., Altmüller, J., Zimmermann, K., Greenspan, D.S., Akarsu, N.A., Netzer, C., Schönau, E., Wirth, R., Hammerschmidt, M., Nürnberg, P., Wollnik, B., and Carney, T.J. (2012) Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish. American journal of human genetics. 90(4):661-674
- Haffter, P., Granato, M., Brand, M., Mullins, M.C., Hammerschmidt, M., Kane, D.A., Odenthal, J., van Eeden, F.J., Jiang, Y.J., Heisenberg, C.P., Kelsh, R.N., Furutani-Seiki, M., Vogelsang, E., Beuchle, D., Schach, U., Fabian, C., and Nüsslein-Volhard, C. (1996) The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio. Development (Cambridge, England). 123:1-36
- van Eeden, F.J., Granato, M., Schach, U., Brand, M., Furutani-Seiki, M., Haffter, P., Hammerschmidt, M., Heisenberg, C.P., Jiang, Y.J., Kane, D.A., Kelsh, R.N., Mullins, M.C., Odenthal, J., Warga, R.M., and Nüsslein-Volhard, C. (1996) Genetic analysis of fin formation in the zebrafish, Danio rerio. Development (Cambridge, England). 123:255-262
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