Genomic Feature
muz97
Notes
No data available
Variants
- Variant Type
- Insertion
- Variant Location
- Chr 1: 12180825 - 12180826 (GRCz11) (1) Details
- Nucleotide change
- -/TATTA
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 5 bp inserted in Exon 3 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: at position 97 (1)
- Flanking Sequence
-
ACCATAATAAATGTAAAATGTTGTAATTTGCGTGTGTTTTTAGGGACTGTGACTGTGTAAGCATTTTAAGCGAGTTTAAGACATTTGGACTCAAGGAATTATCACATTGTGTAACTTTAACAAAGATTCGTTTTATAGCATTATTTATTCAATGAAGACTATTTTAAATCATTTTATTTTTGCACATGAATACTGTTAGACTCCTTTATTTACACCGTTGCTCTATTTATCTGTGCTGGTAATAAGTTTATTATATTTTTTGCAGATGCGCTTCTCTACAAAACCATCCCAATAAAAGTATAAATTATTTCCAAAGAGCTATTCAAGTTATTTGGTGAAAATCTCAATATATAAATCACATAAAATAAACAAAATTGCAATGTAGGTTTTTTCCCCCAATATCGTGCAGCCTAACTTAAAAATGATCTGAATTTGTCTCTTTCAGCCATTGTGTACCTGATAGGAGCGATAGAAGTTGGTGTGGCCTACCTGCCGTTCTTC
-/TATTA GCTTGTCTTTCAACACCACACCGAGTGCTCGGAGGGATTTTAGGTCTTCTCTACACGCTCATGTGGTACATCAATCACTCCAAAAACCTTCAGTCATCTATCTAATTCTCTGTTTGCCTTCTTACTGCTGCTGTAAAAGTATACAGTATGTGTGTTGTTGAACTGACTGTGTTGCACTGTGTGTTTTGTATCTCCTGTGGGGATTCAGGCTCATTGTGAGACTGTATGACACGATAACCTGCCCTGCGGGAAAGGTTAGTGAATAAGATTAATAATTAACTTTATTAATTATTTACTTTATGGTATTATGATTTGCATGTTAACATTAGGTGTAATTCCCTCAGTGTGTAAAGCAAATGTGCCTGATATAATGTAATGTAATATAATGTAATATAATATAATATAATATAATATATTATAATATAACATAACATAACATAATATAGTATTAGTTCTGACAGTAGATCATAATAAAATTTTAAAAATAAAATCTGATTGCAG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| stra6lmuz97/muz97 | Homozygous | ♀+/- ♂+/- | 5 figures  from 2 publications | Fig. 7 from Shi et al., 2017 |
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Supplemental Information
- Genotyping protocol
- None
- Solanki, A.K., Kondkar, A.A., Fogerty, J., Su, Y., Kim, S.H., Lipschutz, J.H., Nihalani, D., Perkins, B.D., Lobo, G.P. (2020) A Functional Binding Domain in the Rbpr2 Receptor Is Required for Vitamin A Transport, Ocular Retinoid Homeostasis, and Photoreceptor Cell Survival in Zebrafish. Cells. 9(5):
- Lobo, G.P., Pauer, G., Lipschutz, J.H., Hagstrom, S.A. (2018) The Retinol-Binding Protein Receptor 2 (Rbpr2) Is Required for Photoreceptor Survival and Visual Function in the Zebrafish. Advances in experimental medicine and biology. 1074:569-576
- Shi, Y., Obert, E., Rahman, B., Rohrer, B., Lobo, G.P. (2017) The Retinol Binding Protein Receptor 2 (Rbpr2) is required for Photoreceptor Outer Segment Morphogenesis and Visual Function in Zebrafish. Scientific Reports. 7:16207
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