Genomic Feature
zf340
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 8: 1044752 (GRCz11) (1) Details
- Nucleotide change
- A/T
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A in Exon 2 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Cys>Stop at position 73 (1)
- Flanking Sequence
-
ACACACACACACACACACACACACAATGGGTTTTCATGCTTTATGGGCTCTCTCCAAAGTTGTAATGATGCTGCACACATCTACACCCACACACATCTACAACGGTGATCTACATACACACACACACACACACACACACACGCACGCACGCACGCACGCACGCGCGCATGAGCAAACCTATACGCATGCATGCACGCACACACTCACACATACATCTACACACAATACACTCACATACACACACATGTGAAAACACACGCACATACACGTATATAAATAAATCTATACACACACAAACAAAACACGCAAACTATATGGCGCCATCTAGAGTCTGAATAACGCTTAGGTTAGTGTATACTCCATCAGCTGGATGTACTTTATCCCTATAGTATGGCATGAGTGATGTGTTTGTGCTCGTACCGGACGTTTTCACTCGGCGGTTTTCCGTAGGTCTTGATGGCAGCACACTCCAGCTTGTGTTCCTCCCAGCCGGCGCGCTG
A/T CATGTTTTGTCACAGTACTGCGCAAACCTGCACTGTCCGCAGCGCTGCAGCTTCTCCTGACGCCGGAAACAGCTGTGACAGATGCTGGACGCCTGGCTGCAGGAGGAACACAAATGACAACACACACATTCAAAGCCAGATTTTATATGTAACATACACACACACAGATGCAGCAAAATGCTTATACAACCAGCTGTGACCTTAAAACCGGCTTCTCTACTTATTTTGTTGTCTTGTTTCTAGTCTAAATATCTAAACATTCTTAAATCCAGAAGCATTTTCTAGACAAGCGAACTCTGTTTCATTCAACCCAAGCTCATTCTGGAAACGTAGCTCCGCGGATGTTTCTGGAGACCGCGATTTACGTGGCCGGAGGTACATAAGGCCGCGTTTAGTTTTTTCCGAGCGAACGCTGCGGGGCGGTGTGGCGCCGCTCTGCTCCTCCTCTTCGCGCTCGCCGGCCGACGGCTCCCCTCCGAGTGGAGGGCTTTCCCGATGCA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| smyd1bzf340/zf340 | Homozygous | ♀+/- ♂+/- | 5 figures  from 2 publications | 2 figures from Just et al., 2011 | |
| smyd1bzf340/zf340 | Homozygous | Unknown | Fig. 4 from Paone et al., 2018 | 2 figures from Paone et al., 2018 | |
| smyd1bzf340/zf340; ulm100Tg | Complex | Fig. 3 from Rudeck et al., 2016 | Fig. 3 from Rudeck et al., 2016 |
1 - 3 of 3
Show
Supplemental Information
- Genotyping protocol
- None
- Paone, C., Rudeck, S., Etard, C., Strähle, U., Rottbauer, W., Just, S. (2018) Loss of zebrafish Smyd1a interferes with myofibrillar integrity without triggering the misfolded myosin response. Biochemical and Biophysical Research Communications. 496(2):339-345
- Rudeck, S., Etard, C., Khan, M.M., Rottbauer, W., Rudolf, R., Strähle, U., Just, S. (2016) A compact unc45b-promoter drives muscle-specific expression in zebrafish and mouse. Genesis (New York, N.Y. : 2000). 54(8):431-8
- Etard, C., Armant, O., Roostalu, U., Gourain, V., Ferg, M., Strähle, U. (2015) Loss of function of myosin chaperones triggers Hsf1-mediated transcriptional response in skeletal muscle cells. Genome biology. 16:267
- Prill, K., Windsor Reid, P., Wohlgemuth, S.L., Pilgrim, D.B. (2015) Still Heart Encodes a Structural HMT, SMYD1b, with Chaperone-Like Function during Fast Muscle Sarcomere Assembly. PLoS One. 10:e0142528
- Just, S., Meder, B., Berger, I.M., Etard, C., Trano, N., Patzel, E., Hassel, D., Marquart, S., Dahme, T., Vogel, B., Fishman, M.C., Katus, H.A., Strähle, U., and Rottbauer, W. (2011) The myosin-interacting protein SMYD1 is essential for sarcomere organization. Journal of Cell Science. 124(Pt 18):3127-36
1 - 5 of 5
Show