Genomic Feature
fh297
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 25: 17956127 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Gln>Stop at position 1217 (1)
- Flanking Sequence
-
CATCCATCCATCCATCCACTCTTAAACTGTTTATAATTCATTTATCCATCTACACTCTATCATCACAATAAATGTGCATTATTTTTTAGAAATTGCATACACAACTTATTCTTGAAAATGTAGCTAGGTATTTTTTCACATCACAGCTTTGTCTGTAATCAATCAACCTACTTTTTGAGCCCCTTTAGCATCTTTGAGTGTTGCTATGAGCTCCTCCAAGCCTTTCAGCTTTAGCTCCAGTTCCTGCGCCTTCCCTTCTGCCTTCCTTCTTTCTTCCTCCGTTATCTGTGCATCCTCTCTGACCCGAGCCCTGTCCTCTTGAAGGTGGAGCATGGTGTTTGAAAACTTCTCCTGCTGGGCCAGCGGCAGGGCTCCTGAGAACTGTCTGCGGAGGGCCTGGATGGTGTGCCGGAGGTGTCTGGCCCGCTGGTGACCCTCCTGCCTCGCGTGCCAGAGTGCCTGCTGTTGCTCATCCAGTTTTTGTTCGTCACGGAGCTTCT
G/A CGCCTCCAGTTTCTGCAGACGTGTGTTTGTGGCCTCCAGACGGCTAATTGCTGTGGTCTCGCTCAGCTGGAGAGCCACAATGTGCTGATGGAGTTTGGCGATCAGGGCCTTTTCATCAGACTCAGCCTGTAGAGGAGAAGTGCAATTATTAACAAAGAATTTTCAATCAATTGTTTTTTTATTTCATGATTCTAATAATGATTCTCAAAAGCAGATGAAAATCAAGATTTACTTTCCTTTTTTTAATAAAAAAAAAATGAACCGAAGAAAATGCAACGTTGAACATTTAATACACTTTTATTTTAAGTTTGAATTTTATTAAGTACTCTGAAAATGAATTGGGCTTTTATTTGATTTTTTTTGCTCCAATTAAAATTCAGCTTTTTTTTTTTTATAAAGTGGCTAATTTGATATTGTTTGATTTTTTTCCCCTTACATTTTTAATCTGTATTCCAGGGAAGTGTGGGCATGTCTGGAGAAGTGCAGCAGGGCTTATTAAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| cep290fh297/fh297 | Homozygous | ♀+/- ♂+/- | 17 figures  from 2 publications | 3 figures from 3 publications | |
| cep290fh297 | Unknown | Unknown | |||
| cep290fh297/fh297; fl1Tg | Complex | Fig. 1 from Fogerty et al., 2022 | Fig. 1 from Fogerty et al., 2022 | ||
| cep290fh297/fh297; mi35Tg | Complex | Fig. 5 from Fogerty et al., 2022 | Fig. 5 from Fogerty et al., 2022 | ||
| cep290fh297/fh297; mi2002Tg | Complex | 2 figures from Fogerty et al., 2022 | 2 figures from Fogerty et al., 2022 | ||
| 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 | |||
| cep290fh297/fh297; arl13bhi459Tg/hi459Tg | Complex | 2 figures from Lessieur et al., 2019 |
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Supplemental Information
- Genotyping protocol
- None
- Grabinski, S.E., Parsana, D., Perkins, B.D. (2023) Comparative analysis of transcriptional changes in zebrafish cep290 and bbs2 mutants by RNA-seq reveals upregulation of inflammatory and stress-related pathways. Frontiers in molecular neuroscience. 16:11488401148840
- Fogerty, J., Song, P., Boyd, P., Grabinski, S.E., Hoang, T., Reich, A., Cianciolo, L.T., Blackshaw, S., Mumm, J.S., Hyde, D.R., Perkins, B.D. (2022) Notch inhibition promotes regeneration and immunosuppression supports cone survival in a zebrafish model of inherited retinal dystrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience. 42(26):5144-5158
- Mytlis, A., Kumar, V., Qiu, T., Deis, R., Hart, N., Levy, K., Masek, M., Shawahny, A., Ahmad, A., Eitan, H., Nather, F., Adar-Levor, S., Birnbaum, R.Y., Elia, N., Bachmann-Gagescu, R., Roy, S., Elkouby, Y.M. (2022) Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium. Science (New York, N.Y.). 376(6599):eabh3104
- 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
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