Genomic Feature
nl16
- ID
- ZDB-ALT-160816-3
- Name
- nl16
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Nechiporuk Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 15: 47812050 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
-
G219A transition causing a W73X truncation of the protein
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A at position 219 in Exon 1 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Trp>Stop at position 37 (1)
- Flanking Sequence
-
TGTTTTTAGAGTGTCGTTTATGTTTTCTAGGATGCTCTATGTGAACTCAAGGTGTTTTCTAGAGTGTTTTGTGTAGTGTTTGTGTGTTTTCTTGAGGTTTTGTACTTTGTGTTTTGTAAATGGTTTCTAGGGTGTTTTAGTCTGCTCCAGGTGCTATTCAATATATTCTGAGTGTTGTTTGTGTGTTTTCTAGGGTATACTTTTCCAGGTATTTACTGGGTGTTTTAGGATGTTCCCTATGTGTTTTCTAGTCTATGATATTCTTAGTATATTACAGGTGTTTTCTAGTTTTTTTGTGGGTGGTATTGTTGCTTGTTTTCTAGTGTTTTCTATGGTTTTCCATGTGTTATGTGTATGTTTTCTAAACTTTTCTGGGTGTTTTGGGTGTTTGTATGGTGTTCTGAATGCTTTTAAGCGTTTTTCTGGGTGTTGTTTGTGTCTTCCATGGTGTTTGCACCTTTTTTGGGCCCGATGTTGCTGATGAACTCCACTTTACTGCA
C/T CACGTGTCGAAGGTGTCCAGGATGCTCTGCGAGTCTCCAGGTGTTGCGTGGGTAAGTATGTACTGAAAGGCCCGTTCCTCTCGACTGATGCCCGATAAACAGTCCCGCACCCAGCGGGTCAGCACCGCTCGATACAGCAGCACAAAGTAATAACGGTAACGGATAATCAGAGTGAGTAAAAGAGGAAGAAAAGCCAAGGCGATCGCAGGAGATACCATCTTCAACACTGACCTGCAATACACACAATAACAAGCAGAAGCTTCAGTCACTTTCACATATTAGAAGATCCAATACACTATAAACAGTACAGAAACACCAAGAACACCCTAGCAACCACATTGAAACACACTAAAACACCATGGCAACACACTAAACACTCAAACACCCTAACAATCACATATAAAAATTCTAAACAAACCCAGAACACTGTAACAACCACATAGTAACACATAACGCACATCCAAAAGCCATAGCAACCACATAGAAACACACTAAAACAC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| tomtnl16/nl16 | Homozygous | ♀+/- ♂+/- | 3 figures  from Erickson et al., 2017 | 2 figures from Erickson et al., 2017 | |
| tomtnl16/nl16; vo20Tg | Complex | Fig. 6 from Erickson et al., 2017 | |||
| tomtnl16/nl16; vo21Tg | Complex | Fig. 7 from Erickson et al., 2017 | |||
| tomtnl16/nl16; vo26Tg | Complex | Fig. 8 from Erickson et al., 2017 | Fig. 8 from Erickson et al., 2017 | ||
| tomtnl16/+; tomttk256c/+ | Complex | Fig. 8 from Erickson et al., 2017 | |||
| tomtnl16/+; tomttk256c/+; vo25Tg | Complex | Fig. 8 from Erickson et al., 2017 | Fig. 8 from Erickson et al., 2017 |
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Supplemental Information
- Genotyping protocol
- None
- Kawano, D., Pinter, K., Chlebowski, M., Petralia, R.S., Wang, Y.X., Nechiporuk, A.V., Drerup, C.M. (2022) NudC regulated Lis1 stability is essential for the maintenance of dynamic microtubule ends in axon terminals. iScience. 25:105072105072
- Mandal, A., Wong, H.C., Pinter, K., Mosqueda, N., Beirl, A., Lomash, R.M., Won, S., Kindt, K.S., Drerup, C.M. (2020) Retrograde mitochondrial transport is essential for organelle distribution and health in zebrafish neurons. The Journal of neuroscience : the official journal of the Society for Neuroscience. 41(7):1371-1392
- Erickson, T., Morgan, C.P., Olt, J., Hardy, K., Busch-Nentwich, E.M., Maeda, R., Clemens-Grisham, R., Krey, J.F., Nechiporuk, A.V., Barr-Gillespie, P.G., Marcotti, W., Nicolson, T. (2017) Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt). eLIFE. 6
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