Genomic Feature
lri46
- ID
- ZDB-ALT-170314-1
- Name
- lri46
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Brian Perkins Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 17: 8259799 - 8259805 (GRCz11) (1) Details
- Nucleotide change
- CCTGGAT/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 7 bp deleted in Exon 5 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
TTACCCGGCTGATAAACGATATCATAAGGAATTGCGTTAAAATTTAAGTCAGTAACAATGATAAGCTCTGGACTTTTTTACTCTATATCGATCTAAGAGCCAATCACACTGCAGAAATGTGCAACAATGGGAACCTAAAAGTGTGTTGATATTAGAGATGTACTGAATATTCGGCCCCCAAAAGTTTATTTACCGAAAATGTTATGCCATTTAATGGACCCTCTAATTTTTGTGGCTTCTGTCATCTGGAATTTAAATCTGGAAGCATTAACAACTGATATCAAAATATATATCGTTATCATTCAATATGGAAAATAATTATCGAGACTGCATTTTTGCCATATCACCCCACCCTATGTAGAATGCAACACTGTGAATCGGCACAGTAAATCTATCATGGTGATGATATCAATGTAGACAGCTGATTATACCTTCTTTTCGTTTCTTTTTCTTCTTCACTTTGGGTTTGACTGTATCCTCCTTGAACTCCTCTACATCAT
CCTGGAT/- GATTTCTGTCTGGTTTTCTGCTGACACTTCAGCCTGACTGCAGAGAAAGAGACAAGCCAAATTAAGAAAGAAAAAGAAAGAAAATCATGAAAACTAAAAACTGTGATCTCTTTATTTCATCCAATGCTTTAAGGCCACTTAAAGTTTGTGAAAAGTAAAATGTGTGATATATTCAGCTCTTGTATCACTAAACAAAATTGCAAAAAGCAAAAATTGTGTGGCTCTCAAACTTAAAGGTAGAAAAAAACACCTGTATTTTGTTAAAAAAAAAAAAAAGTACAGTTCACCCCAAAAATTTAATTTAATCTCTACTTACTCACCTCCAAGTGGTTCCAAACCTTTATGTTCTTCAATTAAACACAAAAGAAGATATTTTAAAGAATGCTGGAAACCTGCAACCATTGACTTCATTAATAGGAAAAATAAATACTAATGGGTTTTTTTAACCATTCTAAATGGTTTAGTTTCCCACTTAAAAAAAAAAATGTTTTTAACAGAAG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| ahi1lri46/lri46 | Homozygous | Unknown | Figure 5  from Zhu et al., 2019 | ||
| ahi1lri46/lri46 | Homozygous | ♀+/- ♂+/- | 10 figures from 2 publications | 3 figures from Lessieur et al., 2017 | |
| ahi1lri46; cu6Tg | Complex | Fig. 9 from Lessieur et al., 2017 | Fig. 9 from Lessieur et al., 2017 | ||
| cep290fh297/fh297; ahi1lri46/lri46 | Complex | 2 figures from Lessieur et al., 2019 | |||
| cep290fh297/fh297; ahi1lri46/+ | Complex | 2 figures from Lessieur et al., 2019 | |||
| cep290fh297/+; ahi1lri46/lri46 | Complex | Fig. 12 from Lessieur et al., 2019 | |||
| cep290fh297/+; ahi1lri46/+ | Complex | Fig. 12 from Lessieur et al., 2019 |
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Supplemental Information
- Genotyping protocol
- None
- Lessieur, E.M., Song, P., Nivar, G.C., Piccillo, E.M., Fogerty, J., Rozic, R., Perkins, B.D. (2019) Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. PLoS One. 14:e0213960
- Zhu, L., Chen, L., Yan, L., Perkins, B.D., Li, S., Li, B., Xu, H.A., Li, X.J. (2019) Mutant Ahi1 Affects Retinal Axon Projection in Zebrafish via Toxic Gain of Function. Frontiers in Cellular Neuroscience. 13:81
- Lessieur, E.M., Fogerty, J., Gaivin, R.J., Song, P., Perkins, B.D. (2017) The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival. Investigative ophthalmology & visual science. 58:448-460
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