Genomic Feature
ta222a
- ID
- ZDB-ALT-980413-693
- Name
- ta222a
- Synonyms
-
- AA22A (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 1: 11028677 (GRCz11) (1) Details
- Nucleotide change
- T/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- A>T in Exon 4 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Lys>Stop at position 76 (1)
- Flanking Sequence
-
GTCAGGATGAGGGTTGAAAGTAATAGTTTTTCTGCATTTACATCTGTTTTTTAGTATTACATATTATTATAATAGTATAACAATAATTAAAAATCCATGTCATGGCCCCTTTAAGAACTTAATATTTCAGTCGCATCACTGTTTTATTTATCAACACTTTGAAAATTTGCTGAAAACAACTTCAACCAGACATTGTAATTAGATTTTGTTTGTCTGTTTTCAAGCTGTCTCAATGTTTCATTCCATTTTATCATGCAGAGACATTTTTAAGCCAGTGAAATGGATAAGTGTCATTACCTTATCAAGCTGTAAAAAGTGTGCTTCAGCATAATTTTGTCTTGAATTTATTAAAAAAAAGCTCAACCGAAACATTGAAATTTCAGAAGCTGTGAATAGTAAAACAGCCAGCTGAACCAATTAACTCACATTGTTCTTCTGAAGGATCTGCAGGGCCCTGTTAACATTGTTAAGGGAGTGCACTCGAGTGAAGCCACGTTCTT
T/A AACCTGCAAATGGGGAATATATCAGAAATGAACTTTGAGCATCCATTGCAAATGAATTCAACCATTTATGCACTCATCCTTATCCAAATGCTTTGAAACCTTGGGTATGTCTTTTTTCTTGTTACAAAATAGAGCGAAGAAAGTCTCTCAGAATGTAACCAGAATACAGCAGAGCCAAATAAGGGTATATCGCACCAAATTAATGTTCGGTCATTGTTTACTTATCCTAACTATAATATATAGTCTTTGTGAATAATCAAAGTATTTACATGCTGTTATTTTGCAGAATAGATTGTGTCTGTTGCCATCATTTGAAAGGTACTCTGGACAAAAGAGTCTTCTAAATTATTCATGTAATGTAATGTAATCATTCTTAATGTGAATGAGCTTTTAAATATTTAGACTTAAAAGATTAAACTCCTGGTCAAATACATCATATTACTTCCCAAGACTTTTAAATAAATTACATGAGATGCATCGACCATTTCTGATGATAATGA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| dmdta222a/ta222a | Homozygous | Unknown | 17 figures  from 7 publications | 4 figures from 3 publications | |
| dmdta222a/ta222a | Homozygous | ♀+/- ♂+/- | 63 figures from 28 publications | 9 figures from 6 publications | |
| dmdta222a/ta222a (AB) | Homozygous | ♀+/- ♂+/- | 3 figures from 2 publications | ||
| dmdta222a/ta222a (TU) | Homozygous | ♀+/- ♂+/- | Fig. 2 from Berger et al., 2012 | ||
| dmdta222a/+ | Heterozygous | ♀+/- ♂+/- | Fig. 4. from Hughes et al., 2020 | ||
| dmdcl100/+; dmdta222a/+ | Complex | Fig. 1 from Guyon et al., 2009 | |||
| dmdta222a/ta222a; fb122Tg/fb122Tg; i104Tg/i104Tg | Complex | Figure 7. from Kilroy et al., 2022 | Figure 7. from Kilroy et al., 2022 | ||
| dmdta222a/ta222a; mai1Tg | Complex | Fig. 5 from Coffey et al., 2018 | |||
| dmdta222a/ta222a + MO1-dmd + MO6-dmd | Complex | Fig. 2 from Johnson et al., 2013 | |||
| dmdta222a/ta222a; pc4Tg | Complex | Fig. 1 from Bajanca et al., 2017 | Fig. 1 from Bajanca et al., 2017 |
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Supplemental Information
- Genotyping protocol
- None
- Dennhag, N., Kahsay, A., Nissen, I., Nord, H., Chermenina, M., Liu, J., Arner, A., Liu, J.X., Backman, L.J., Remeseiro, S., von Hofsten, J., Pedrosa Domellöf, F. (2024) fhl2b mediates extraocular muscle protection in zebrafish models of muscular dystrophies and its ectopic expression ameliorates affected body muscles. Nature communications. 15:19501950
- Hasegawa, E.H., Farr, G.H., Maves, L. (2023) Comparison of Pronase versus Manual Dechorionation of Zebrafish Embryos for Small Molecule Treatments. Journal of developmental biology. 11(2):
- English, K.G., Reid, A.L., Samani, A., Coulis, G.J.F., Villalta, S.A., Walker, C.J., Tamir, S., Alexander, M.S. (2022) Next-Generation SINE Compound KPT-8602 Ameliorates Dystrophic Pathology in Zebrafish and Mouse Models of DMD. Biomedicines. 10(10):
- Kilroy, E.A., Ignacz, A.C., Brann, K.L., Schaffer, C.E., Varney, D., Alrowaished, S.S., Silknitter, K.J., Miner, J.N., Almaghasilah, A., Spellen, T.L., Lewis, A.D., Tilbury, K., King, B.L., Kelley, J.B., Henry, C.A. (2022) Beneficial impacts of neuromuscular electrical stimulation on muscle structure and function in the zebrafish model of Duchenne muscular dystrophy. eLIFE. 11:
- Brogi, L., Marchese, M., Cellerino, A., Licitra, R., Naef, V., Mero, S., Bibbiani, C., Fronte, B. (2021) β-Glucans as Dietary Supplement to Improve Locomotion and Mitochondrial Respiration in a Model of Duchenne Muscular Dystrophy. Nutrients. 13(5):
- Licitra, R., Marchese, M., Brogi, L., Fronte, B., Pitto, L., Santorelli, F.M. (2021) Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid. Nutrients. 13(3):
- Naef, V., Marchese, M., Ogi, A., Fichi, G., Galatolo, D., Licitra, R., Doccini, S., Verri, T., Argenton, F., Morani, F., Santorelli, F.M. (2021) Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish. International Journal of Molecular Sciences. 22(16):
- Smith, S.J., Fabian, L., Sheikh, A., Noche, R., Cui, X., Moore, S.A., Dowling, J.J. (2021) Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy. Human molecular genetics. 31(5):733-747
- Stocco, A., Smolina, N., Sabatelli, P., Šileikytė, J., Artusi, E., Mouly, V., Cohen, M., Forte, M., Schiavone, M., Bernardi, P. (2021) Treatment with a triazole inhibitor of the mitochondrial permeability transition pore fully corrects the pathology of sapje zebrafish lacking dystrophin. Pharmacological research. 165:105421
- Berger, J., Li, M., Berger, S., Meilak, M., Rientjes, J., Currie, P.D. (2020) Effect of Ataluren on dystrophin mutations. Journal of Cellular and Molecular Medicine. 24(12):6680-6689
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