Genomic Feature
sa11
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 17: 30845986 (GRCz11) (1) Details
- Nucleotide change
- T/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A in Exon 3 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
GTAAAAAAGCAAACAAATAAAAAAAAAATAAATAAAGTGAGATGAACGATATTCTGAATAATGTTGGGAAAAGGGTCATTGACATCCATGGTAGCAACGACAATAAATACGATAGAAGTCAATTGATGCCCCCCAACCCTACAAGAATCTTCAGCATATGCATTTTTGTGTTCAACTGAAAATAGAAACTCAAGCTGGCTTGGAACAAGCAAAGGATGAGAGAATTAAAATATTTTGGGTGAAATATCCCTTTAATTACAATAAGGTATTTCACTAAAATGTTGAATTGCATGTTAAACTAATCATATTTTGTAGCATAAATCAATATTGTAATAATATTTACAATAACCTGCCTAGTCCAAACTATAAAATACATTGATCTTTTTTTCATGCAATTTTCACAATCTCTATTTTCAAAACAAAACAAAACAAACTTAATCATGTTCCCTGTTGTTTTAGTGTACCTGGGGACTGGACATTTCTTGGACGGGTTGGACCAT
T/A GGAAGAAGTTGAACTAACGTTTGCGCTGAAGCAGCAGAATGTTAGCAAGATGGAAGAGTTACTCAAACTAGTATCAGATCCAGATTCACATCAATATGGTATTAATATGCTTCTCAAATGCTGCAATTGAATCTATTCAGCCGAGTCATCAATTGATCGACTGAGTCATCAGATTTCCATTCCTGTTATATTTTTTAGGGAAGTATCTGAGTTTGGACGAAGTCGCTGCTCTTTCCAGACCTTCTCCGCTGACTGAAAAAGTGGTAGAGAATTGGCTTCGGAGTCATGGGGTCATGGACTGTCACACTATTATAACACGGGACTTCCTTCAGTGTGTCATGACTGTGGAGTAAGAACAATTTTAGTGAATTCTACACTATTCATGGCAGAAAAAATCACTTCACTGTAGATGAAGAAAGTAAAAAAATAATAGTTTTCAGATATTTTTTGAGATATTGGAGTGGGATTTAACTCATTTTATTTATCATAATTCAGAAAAA - Additional Sequence
- None
Fish
Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
---|---|---|---|---|---|
tpp1sa11/sa11 | Homozygous | ♀+/- ♂+/- | 9 figures ![]() | Fig. 3 from Mahmood et al., 2013 | |
tpp1sa11 | Unknown | Unknown | |||
tpp1hu3587/+; tpp1sa11/+ | Complex | Fig. 2 from Mahmood et al., 2013 |
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Supplemental Information
- Genotyping protocol
- None
- Wager, K., Mahmood, F., Russell, C. (2014) Modelling inborn errors of metabolism in zebrafish. Journal of inherited metabolic disease. 37(4):483-95
- Mahmood, F., Fu, S., Cooke, J., Wilson, S.W., Cooper, J.D., and Russell, C. (2013) A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation. Brain : a journal of neurology. 136(Pt 5):1488-507
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