Genomic Feature
pc20
Notes
| Comment | Citation |
|---|---|
| träge (trg) mutants carry a nonsense mutation in exon 5 of tropomodulin4 ... | Berger et al., 2014 |
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 16: 29676304 (GRCz11) (1) Details
- Nucleotide change
- T/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A in Exon 5 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Leu>Stop at position 132 (1)
- Flanking Sequence
-
ATTGTCCGTAGTGTATAAGTGTGTGTGTGAATGAGTGTGTGTGGATGTTTCCCAGAGATGGGTTGCGGCTGGAAGGGAATCTGCTGCGTAAAACATATGCTGGTAAGTTGGCGGTTCATTCTGCTGTGGCAACCCTGGATTGATAAAGGGACTGAGCCGAAAAGAAAATGAATGAATGAATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATAATAAGTCCATATTTTTTTGTATTTTGTATTTTTACCCTTTAACTTTCAATAAAAAATAATTTGACCATTTCTTTTTTGGTTAAATTGTGTTCCTGACCACTCTAACTAAACCAATGTTGAGTTTTAATAAAAACCTACGCCCAATATGTCATTTAGGCTGTTACAGTGTTAGTTAAGTGGTTAAAGTTTAAAAGAAATGATATGTTTAATGGAATTATGTTTGTCTCTTCACAGCCATCT
T/A GGGAATGTACACACTCATGAGCAACAAGCAATATTATGATGCCCTGAACACCACCGGCAAGATTGCCAACACAGAAGGCATCAACAGTATGTATACACACATATAACACTGAACCATTTCATGTTAAACAAACATAATAGTTACAACTAATATACTCTATGTGTGTTGTAAGGTCAGTTCCAGTTTTGTATATCCACTGGATTTCTTATAAATCTGAATCATACATGGTTTATTCTCTTTCAGGTGTGGTGAAACCAGATGTGTATAAAATCTATCCTGAGGAGCCTCCCAATGACACCAACGTGGAGGAAACTCTCCGCTACATCCAGAAAAATGACAACAGGCTGCAGGAGGTCAACCTCAACAACATCCCGGTAAACATGCTAACTCTGCTACACTCTTTTTAATGTATTGTTCGCTTATACTGTTAGCAATACTTTTACATAAAACAAATCAGGAAGTAACATGATACTTTCTGTCACACACTGTCTAAATAGGTG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| tmod4pc20/pc20 | Homozygous | ♀+/- ♂+/- | 5 figures  from Berger et al., 2014 | 3 figures from Berger et al., 2014 | |
| tmod4pc20/pc20; pc11Tg | Complex | Fig. 3 from Berger et al., 2014 | Fig. 3 from Berger et al., 2014 | ||
| tmod4pc20/pc20; pc21Tg; pc22Tg | Complex | Fig. 3 from Berger et al., 2014 | Fig. 3 from Berger et al., 2014 | ||
| lmod3sa13018/sa13018; tmod4pc20/pc20 (TU) | Complex | Fig 7 from Berger et al., 2022 |
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Supplemental Information
- Genotyping protocol
- None
- Berger, J., Berger, S., Mok, Y.S.G., Li, M., Tarakci, H., Currie, P.D. (2022) Genetic dissection of novel myopathy models reveals a role of CapZα and Leiomodin 3 during myofibril elongation. PLoS Genetics. 18:e1010066
- Berger, J., Tarakci, H., Berger, S., Li, M., Hall, T.E., Arner, A., Currie, P.D. (2014) Loss of tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy. Disease models & mechanisms. 7(12):1407-15
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