Genomic Feature
rmc101
- ID
- ZDB-ALT-180530-8
- Name
- rmc101
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Molecular Therapies for Inherited Eye Disorders
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 13: 37935920 - 37935924 (GRCz11) (1) Details
- Nucleotide change
- CTCCC/-
- Variant Notes
-
c.3488_3492del
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 5 bp deleted from position 3488 to 3492 in Exon 20 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
CAGTGTTATGGGGATACCATACCTTAGTCTATTTTACCTTATTTTAGAAACAAATTATAAAAATGTGAGACTTATAACCTGGTGTGGCTTATTTTCCAATCCGAAACATCTCTGATATTTCCAGATTTACTGCCATAACCCATTCATTACCAACTAAGCATCTAACAAAAGTTATCATCAAAAACTGCTTGACTTTAACTGTAAAACCAGCTCCAAAGTAAGTCAACTGAATTACAAAAAGTTACAAAAGAGCAAACAAAGCCACAGAACAGAAGGCCTGTAAATGACAGCACTCCCCCAGCGGGTGGGTGGGTCAGTGGGTAGGATACAGTTGGGTTGGTACTGTATATCTTACCGACTGGGCAAACACAGAGGGCGGTTCCGTCTGACTGGGCACGGCAGGTGGAGTTGTGCAGGCAGGGGTTACGCTGCAGCTCACAAGGGTCATAGGGCTGTTCACAGAGGGGCCCGGTGAAGAAGGGCGGGCAGGTGCAGGAAAA
CTCCC/- CTGGGGTATCAGACTCCACACAATGTGCCCCGTTCAGGCAGGGCGAGGAAGAACATTCCTTCACATCCTCATCACAGTCCAGGCCTGTCCATCCTTGAGGACACACACACCTATTAGGCAGAGGAGACGTTTGTAGATAAGACTTTTATATTGTTTCACTTTGTGTGAAAAAACTGAATTATGATCAAAAATGACAAATATAATAGTAATAGTATCATAATAGTATCATAATTGAGATCTACATGATTTTTTACTGTTAATTAAAGTTGGGCATTCTTTACCCATTAGTTTTACAGTTTTCAACACAAACGGGTCATTAAGTAATTTCCAATACTCTTTAATAATCTTTTAGACTATTTTTTTTTCTTTCTTCTTTTTTTTTTTTTTTTTTGCATTTTTCATGTAAAACACACATTTTCACAAGTCTTTCAATTACAATTATCATCCATGGGATAAAATGCATACTGAGTTAAAATATTAGTGAAGTCAACACATTCCTA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| eysrmc101/rmc101 (TL) | Homozygous | ♀+/- ♂+/- | 5 figures  from Messchaert et al., 2018 | 3 figures from Messchaert et al., 2018 | |
| eysrmc101/rmc101 (TL) | Homozygous | Unknown | 2 figures from Schellens et al., 2021 | Figure 5 from Schellens et al., 2021 |
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Supplemental Information
- Genotyping protocol
- None
- Schellens, R., de Vrieze, E., Graave, P., Broekman, S., Nagel-Wolfrum, K., Peters, T., Kremer, H., Collin, R.W.J., van Wijk, E. (2021) Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa. International Journal of Molecular Sciences. 22(17):
- Messchaert, M., Dona, M., Broekman, S., Peters, T.A., Corral-Serrano, J.C., Slijkerman, R.W.N., van Wijk, E., Collin, R.W.J. (2018) Eyes shut homolog is important for the maintenance of photoreceptor morphology and visual function in zebrafish. PLoS One. 13:e0200789
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