Genomic Feature
xu067
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 9: 42776528 - 42776537 (GRCz11) (1) Details
- Nucleotide change
- GAGTTTCAGA/-
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 10 bp deleted in Exon 177 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
CTGTTGGTTTAGGACGACCAGAAACAGGCACCTCAACTTTTATATTTTCACCGGCCTTGGCGATAACTGTCTTCTGACACACACCTCGGAGGTCAAATTCTGGTTCTGAATTTTGTTCTCTGATAACAACATGCTTGCTTACACGAGGATGACTTCGCCCAGAACTATTTACAGCCATCACACGGAATACATATTCTTCATTTTCATTAAGATTTTTCACAGTTAAGTCCAAATTCTTAATGGTTGTCACGTGGGACCACTGATCTGTTCCTTTCTTTTGTGCCTCAATTACATACCCAGTTACTCTACTTCCGCCATCATGCTTTGGTTTAGTCCATGTAAGTCCAACTGTGTGCTTTGTGACATCAGTAATGGTGACATTTTCTGGAGGAGTTGGTGCTTGAGATACTCTGATCGGGTCTGGGGTTTCAACTGCTTCACCAATGCCATATTCATTTTCAGCAGAAACTCTGAAATAATATTCCAAACCCTCTCCTAGA
GAGTTTCAGA/- TGACAGAGCATTTCTCGCATTTTGTGATAACAGCAGCATATGCCTTGCGGGTAGACTCTCTCTTTTCAATGATGTAATTAGTGATCTTGGCACCGCCATCAATAAGAGGCATTTCCCATGCCAATGTAATGCTTTCTTTGTCAATAGCTGTAGTTTTCAGATTGAGAGGAGGCCCAGGTGAGTCCAAAACCCTAACAACCACAGAAGTAGTCTTCTTTCCAGCTGCATTCTCTAATGTTAAATCATATTTTCCAGCATCACGTCTATTGCAGTCAGGAATAACCAACAGGGTGTATGATTCAGTATTGTCAATAATTGCACGGGTCTTCAATGGTGAATCCTCTTTTGTCCATGTCACTGTAGGGGTTGGACGTCCTTTAATAGGAATAAATATACGAATTGAAGCACCTGCCCTAACAACTAAAGTTCTTCTTAGTTCTACATCAAGTTCTAAATCAGGGATTTCTTCACGTTCTACTATTTGAACAGCATCCGCTGTT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| ttn.1xu067/xu067 | Homozygous | ♀+/- ♂+/- | 2 figures  from Shih et al., 2016 | Fig. 1 from Shih et al., 2016 |
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Supplemental Information
- Genotyping protocol
- None
- Zhu, P., Li, J., Yan, F., Islam, S., Lin, X., Xu, X. (2024) Allelic heterogeneity of TTNtv cardiomyopathy can be modeled in adult zebrafish. JCI insight. 9(7):
- Shih, Y.H., Dvornikov, A.V., Zhu, P., Ma, X., Kim, M.J., Ding, Y., Xu, X. (2016) Exon- and contraction-dependent functions of titin in sarcomere assembly. Development (Cambridge, England). 143(24):4713-4722
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