Genomic Feature
sa14768
- ID
- ZDB-ALT-130411-3442
- Name
- sa14768
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation
- Protocol
- adult males treated with ENU
- Lab of Origin
- Stemple Lab
- Current Source
-
European Zebrafish Resource Center (EZRC)
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Zebrafish International Resource Center (ZIRC) ( order this ) - Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 11: 863760 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T in Exon 15 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: at position 448 (1)
- Flanking Sequence
-
TTATATATTTACTTATTTATTTATTTATTTACTTATTTTTATTTATTTACTTACATATTTGTTTTTTATTCATTTACTTATTCATTTGTTTATATTTTTATTTACTTACATATTTCCCTATTTATTTACTTATTTACCTAATCATTTACTTATTTATTTTTTTTATTTATTTACATATTTACTTAATCATTTACTTATTTATGTTTATTTATTTATTTACCTATTAATTTTTTATTATTCACTTATTTACATAATTACTTATTTACTTATTAAATCACTTAACTAAAACATAACTACAAAACTTGGACTTGTACTCATATCGCAGAAAAACACAGTATTACGCTGTCATATTTTTTGCAAGGTATGGTGCTGCTGTACCTTTCTCTGGCTGGCAGCGATGACGGTGGGCAGCCAGCGGCTCTCTCTGGTGTCCATCAGCAGAAAAACCACATCGTGTTCAGAAATGAGTTTTTTCAGCTGCTCCACGTCCTGCTGCGCTT
G/A AGCTACGGTCAGATCTGAGAAGTTGACAGGGTGTCCGGGCATCGGGATGCTCATGTTGAAGCCTTCTGCATTCTGAACAACAGAAAACAACAATACATCCATACACTGTAAAACACGCAATGACAAAAAGACAGCAAATATTTTGGTCACTTTACAATAAGATTTCATCTAAAAATGTATTTACTAGCATGAATTTATTCTGAACAGTACTCAAACAGCATTATAAATAACAACCAACATTCACTAATGCATTATTAAAGTAGTTAAAATTAGCAAATGCACTGAGTTAACATGAACTAACAATCAGCAACTGTGTTTACAACTGACATGAACAAATACTGTAATACAAGTGTTGGTGATTGTTTCTTCATGTTAAACACATTCATCAATTCCCTTGGCTTAGCCCCTTTTTTCATCAGAGAACGCCACAGTGGAAAGAACCACAAACTATTTTAGGATATGTTTTACACAGTGGATGCCTTTCCAGTCGCAACCCAGTA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| atg7sa14768/sa14768 (AB) | Homozygous | ♀+/- ♂+/- | Fig. 11  from Tucker et al., 2024 | ||
| atg7sa14768/sa14768; cu7Tg | Complex | Fig. 1 from Siddiqi et al., 2019 | |||
| atg7sa14768/sa14768; rptorau93/au93 (AB) | Complex | Fig. 11 from Tucker et al., 2024 |
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Supplemental Information
- Genotyping protocol
- None
- Tucker, S.K., Gosul, R., Swartz, M.E., Zhang, S., Eberhart, J.K. (2024) Zebrafish raptor mutation inhibits the activity of mTORC1, inducing craniofacial defects due to autophagy-induced neural crest cell death. Development (Cambridge, England). 151(6):
- Siddiqi, F.H., Menzies, F.M., Lopez, A., Stamatakou, E., Karabiyik, C., Ureshino, R., Ricketts, T., Jimenez-Sanchez, M., Esteban, M.A., Lai, L., Tortorella, M.D., Luo, Z., Liu, H., Metzakopian, E., Fernandes, H.J.R., Bassett, A., Karran, E., Miller, B.L., Fleming, A., Rubinsztein, D.C. (2019) Felodipine induces autophagy in mouse brains with pharmacokinetics amenable to repurposing. Nature communications. 10:1817
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