Genomic Feature
s327
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 16: 39131377 (GRCz11) (1) Details
- Nucleotide change
- G/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>A at position 167 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Ser>Stop at position 55 (1)
- Flanking Sequence
-
TTGTGGCCCAAGCAGGACGAGAGCTTACCAAATCTTTAGCACGTAAATAAACCACTAAGGAAAAAAGGGTAATTTAATTTCATAAGAAATATAATTAGGTGTCCTCTAACAATGATCTTTGTCGGTCGTGTTTTGTTTTAATTAGAGCAAAGAGATTTTAAGTACTTGCTTCACAAGTCTTTAAAGTTTGAGTTTAAGGCGTGAACACCATATTAAAATAATTATATAATTTAAGAATAACTTCTTTAAATAAAAAAGAAGAATAACTTTTAAGTGCAACAGTGCATGCTTCAAATAATGCATAAAACAGAATAAAGCAATACAAACCTTTTCCCTTGTCCACGAAACTCGTTATGGTGTTTGCAGACTTTGAAGAGCGGAAAAAGCTCGCATTGAGCCCCAGTTTCTCAGCGGCGGAGTAAGTCCTGTATATGGAGATCATGTAGTCATGAGGCACAACCGGGTCCTTAAAATCATCCCGACGACTCGCGCCCGGTGAT
G/T ATGCTAAAATCTCTTTAAGAAATTTATGTGACCTTTGTCCATCAAACGCGCTCCTGGCACCCTTGCTCCTTTTCTGCGATATTAGCGCAGCTGACTGGCAACACGGTAAACTCCAGAGGAAAACGAAGAGCGCGTAAAAGGCGACTGCTCTCAAGGCATCCATGGTGTTACTATCCTCCAAAGAGTAAAGTGGAGCCGTGTCTCACAGTGAAGCCGGACTTTTTGGTTTGTGTTTGTTTGACGAGCGCGGACAGCGCGAGATCGGCGTGTTGCGTGTCTGAAGTGAAGTGCGCTGTAGACTCGAGAGCGCGAGGCTGCAGACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACTCACTCTCTCACATACACAAACTCACGTATACACACTCACTCGTGGCACGCCCACTGCACTCCTCAGACTATCCTGTATATATTGAACTTATCCACACTCTCTGCACAACTTTTCAGC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| gdf6as327/s327 | Homozygous | ♀+/- ♂+/- | 36 figures  from 15 publications | 16 figures from 8 publications | |
| gdf6as327/s327 (TL) | Homozygous | ♀+/- ♂+/- | 3 figures from Muto et al., 2005 | ||
| gdf6as327/+ | Heterozygous | Unknown | |||
| gdf6as327/+ | Heterozygous | ♀+/- ♂+/- | 3 figures from Hocking et al., 2018 | 3 figures from Hocking et al., 2018 | |
| gdf6as327 | Unknown | Unknown | Fig. for (s327) from Phenotype Annotation (1994-2006) | ||
| gdf6as327/s327; ci5Tg | Complex | ||||
| gdf6as327/s327; ci5Tg; ua1013Tg | Complex | Fig. 9 from Hocking et al., 2018 | Fig. 9 from Hocking et al., 2018 | ||
| gdf6as327/s327; kj2Tg | Complex | 3 figures from Nadolski et al., 2020 | 2 figures from Nadolski et al., 2020 | ||
| gdf6as327/s327; kj9Tg | Complex | 2 figures from Nadolski et al., 2020 | 2 figures from 2 publications | ||
| gdf6as327/s327; kj9Tg; mi2007Tg | Complex | Fig. S4 from Nadolski et al., 2020 |
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Supplemental Information
- Genotyping protocol
- None
- McCluskey, B.M., Uji, S., Mancusi, J.L., Postlethwait, J.H., Parichy, D.M. (2021) A complex genetic architecture in zebrafish relatives Danio quagga and D. kyathit underlies development of stripes and spots. PLoS Genetics. 17:e1009364
- Nadolski, N.J., Balay, S.D., Wong, C.X.L., Waskiewicz, A.J., Hocking, J.C. (2020) Abnormal Cone and Rod Photoreceptor Morphogenesis in gdf6a Mutant Zebrafish. Investigative ophthalmology & visual science. 61:9
- Gramann, A.K., Venkatesan, A.M., Guerin, M., Ceol, C.J. (2019) Regulation of zebrafish melanocyte development by ligand-dependent BMP signaling. eLIFE. 8:
- Yoon, K.H., Widen, S.A., Wilson, M.M., Hocking, J.C., Waskiewicz, A.J. (2019) Visualization of the Superior Ocular Sulcus during Danio rerio Embryogenesis. Journal of visualized experiments : JoVE. (145):
- DuVal, M.G., Allison, W.T. (2018) Photoreceptor Progenitors Depend Upon Coordination of gdf6a, thrβ, and tbx2b to Generate Precise Populations of Cone Photoreceptor Subtypes. Investigative ophthalmology & visual science. 59:6089-6101
- Hocking, J.C., Famulski, J.K., Yoon, K.H., Widen, S.A., Bernstein, C.S., Koch, S., Weiss, O., FORGE Canada Consortium, Agarwala, S., Inbal, A., Lehmann, O.J., Waskiewicz, A.J. (2018) Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye. PLoS Genetics. 14:e1007246
- Krispin, S., Stratman, A.N., Melick, C.H., Stan, R.V., Malinverno, M., Gleklen, J., Castranova, D., Dejana, E., Weinstein, B.M. (2017) Growth Differentiation Factor 6 Promotes Vascular Stability by Restraining Vascular Endothelial Growth Factor Signaling. Arteriosclerosis, Thrombosis, and Vascular Biology. 38(2):353-362
- Venkatesan, A.M., Vyas, R., Gramann, A.K., Dresser, K., Gujja, S., Bhatnagar, S., Chhangawala, S., Gomes, C.B.F., Xi, H.S., Lian, C.G., Houvras, Y., Edwards, Y.J.K., Deng, A., Green, M., Ceol, C.J. (2017) Ligand-activated BMP signaling inhibits cell differentiation and death to promote melanoma. The Journal of Clinical Investigation. 128(1):294-308
- Hagerman, G.F., Noel, N.C., Cao, S.Y., DuVal, M.G., Oel, A.P., Allison, W.T. (2016) Rapid Recovery of Visual Function Associated with Blue Cone Ablation in Zebrafish. PLoS One. 11:e0166932
- Valdivia, L.E., Lamb, D.B., Horner, W., Wierzbicki, C., Tafessu, A., Williams, A.M., Gestri, G., Krasnow, A.M., Vleeshouwer-Neumann, T.S., Givens, M., Young, R.M., Lawrence, L.M., Stickney, H.L., Hawkins, T.A., Schwarz, Q.P., Cavodeassi, F., Wilson, S.W., Cerveny, K.L. (2016) Antagonism between Gdf6a and retinoic acid pathways controls timing of retinal neurogenesis and growth of the eye in zebrafish. Development (Cambridge, England). 143(7):1087-98
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