Genomic Feature
cl100
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 1: 10893294 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A in Donor Splice Site of Exon 62 (1)
- Transcript Consequence
- Splice Site (1)
- Protein Consequence
- None
- Flanking Sequence
-
TGTCTGGAAAAACAATATTGGTTTTAAAGATGTGAGAAAATTGACATGAAATGCTGAAATGTTTACTCACTATTCCCTAAAACCATGAAAAATATAAGATATTGAATCTGTATGTGTGCAAGATTTTTATTTGAGCTTTTAGCACATATAGAACGCAAAACCTGGCAAACTTCCCAGTTTGAAATGAAGCAAAGCATTTCTGAAATTTGCTCGCTCAGTCAACGGAGTGAGGAAGTTTTCAGTTCTATGTGACGCGTGCTGCTACATGCATTGGCAGCGTCTAATTTATCATCTCAGATTATTCTGCTCAATTTTTCCAGGGTGATCTCCCTGTTCAGAAAAAGGTCAGGTAAAATCACTTTTCTTTTGGTAGTCTGCCGCCAGCTGTGATGTATTTCTAAGACTGGAAAGCTTTCATAGTGTTGAAATTCAATTTGTTAATTCAGTGTGGACCTTGAATGTGCCTGACATCAACATGTGGGCCGAGTTTGAGATGAAGA
C/T TTACTTGATATAGTAGGGGACATTGTTGGGTGAAATAGAGCGTTCGAGAGGGCTTTCAACAGACGCTGTGTGAGAAGAACAAACCCCGTTCATGTTACCTCAATTTCAAAGCTCTTTTCTATTCAAACATTTTTCTATTAAGAACATTTTAAACTCGTATATGTGGAGGAATTTACTTAGCAGATTAGTTAAACATCATACAATACAAAGAATTCATTCATGATTCACTGAGTACAGTGGACTGACATTGGAAAACAGGAACACAAATAAAAACTCACCATGAAGGAAATTCTGAGAGGGTCCCAAGTCCTTAAAGGCTGTGGTCAGCTGACTCAGATGCTCCTCAATGGAGATCTAAAAATAAATATAATCAAAATGTATATTGGGCATGGCAGTTTTGGTTCAAATGAAAATAAGAGCTGAGAAACATTTTCTTTCACAATATTAATTATATTTCTATAGTGCATTTCTGGACACTCAAAGTGCTTTGCACATTTTTG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| dmdcl100/cl100 | Homozygous | ♀+/- ♂+/- | 12 figures  from 4 publications | 4 figures from 2 publications | |
| dmdcl100/+; dmdta222a/+ | Complex | Fig. 1 from Guyon et al., 2009 | |||
| dmdcl100/cl100 + MO1-pde10a | Complex | 5 figures from Lambert et al., 2020 | Fig. 7 from Lambert et al., 2020 |
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Supplemental Information
- Genotyping protocol
- None
- Lambert, M.R., Spinazzola, J.M., Widrick, J.J., Pakula, A., Conner, J.R., Chin, J.E., Owens, J.M., Kunkel, L.M. (2020) PDE10A inhibition reduces the manifestation of pathology in DMD zebrafish and represses the genetic modifier PITPNA. Molecular therapy : the journal of the American Society of Gene Therapy. 29(3):1086-1101
- Spinazzola, J.M., Lambert, M.R., Gibbs, D.E., Conner, J.R., Krikorian, G.L., Pareek, P., Rago, C., Kunkel, L.M. (2020) Effect of serotonin modulation on dystrophin-deficient zebrafish. Biology Open. 9(8):
- Kawahara, G., Gasperini, M.J., Myers, J.A., Widrick, J.J., Eran, A., Serafini, P.R., Alexander, M.S., Pletcher, M.T., Morris, C.A., and Kunkel, L.M. (2014) Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Human molecular genetics. 23(7):1869-78
- Kawahara, G., and Kunkel, L.M. (2013) Zebrafish based small molecule screens for novel DMD drugs. Drug Discovery Today: Technologies. 10(1):e91-e96
- Kawahara, G., Karpf, J.A., Myers, J.A., Alexander, M.S., Guyon, J.R., and Kunkel, L.M. (2011) Drug screening in a zebrafish model of Duchenne muscular dystrophy. Proceedings of the National Academy of Sciences of the United States of America. 108(13):5331-6
- Guyon, J.R., Goswami, J., Jun, S.J., Thorne, M., Howell, M., Pusack, T., Kawahara, G., Steffen, L.S., Galdzicki, M., and Kunkel, L.M. (2009) Genetic isolation and characterization of a splicing mutant of zebrafish dystrophin. Human molecular genetics. 18(1):202-211
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