Genomic Feature
sa11465
- ID
- ZDB-ALT-130411-1298
- Name
- sa11465
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation
- Protocol
- adult males treated with ENU
- Lab of Origin
- Stemple Lab
- Current Source
- European Zebrafish Resource Center (EZRC) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 1: 14314561 (GRCz11) (1) Details
- Nucleotide change
- G/T
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>A (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
TCCACCATGCTGCCTGGGTTAAGATTCAGCAGCACTTGTCTGAATTCATGACTTGCCATTAAGAGAATGTCACCTGCTGGATTGTCCACTTTTGTGACACCATCCACCGGCATGCCAACCGTCACCTCGAAACGGTAACTGTCAAAACGTTTAACGTGGCATTGGTGTGTAGCATAAGCTTTTATCCGACATAACTCTTCCTCTTCCTGCCTTAGGATCAGTATTGTTGTGTTGACAGTTCCTGTGGTGACTTGAGTAACATTCACGATCGGAAATGAATTGTTTTGTGGTTCACACTTCGGATAAACCTCACCGTAGAGACACCGCAACCAGTCGCCCATGAACACCGGTAGCATGTTTATAACAGACTGAGCTCCATTTTCCTTCTCTGCTACACGAACATAACGGAATATTCCTGTCCATGTGACACGATGGCCTTCCAGATGGCTGCAGGAGAGCTGCGTTTGAGCCATTCCTCGTTCTTTCCAGGCTTGCGGGCC
G/T CACAGTGTGCCATATTCCTCCCAGGTGAGTGTGGAGTTATAAACCTTGAGGCCTTCAGCATTATAAACATAGACGCCGCAGAGTAAAATCACTGTAGTGATGCACAGGAGGATCAGTTTGACTGGACCTCGGTGGGTGATGGAGCGGAAGACATTCAGAATTGAGAGGCTAAATCGAGTCCAGAGTCGCAGTGTCACAGGGACGGCGCACACTGCCAGGGTCACCAGCATCTTAGTTAACTCTAACTCCAGGAACCACTTAATCAGCTGAATCAGCAGCAAAGCTATCAGACCCATGATTAACACTGGTAGGGCGAACAGGAAGAGGAAGTAGGCAACACAAGTACGGATCAGGCCGATGGTGGTGGAGTTCCGAAGCAGAACCACAGAGAACTCGCACCAGACAAAGCAGACCAAGTACGGCACCAGGAAACAGTACGTCCCTCTGAAGCCCCTCATGCGCGCCATACTATGAACAGCAAAAAAAGAGGTAGGTTTGAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| wfs1asa11465/sa11465 (AB) | Homozygous | ♀+/- ♂+/- | 5 figures  from Crouzier et al., 2022 | 3 figures from Crouzier et al., 2022 | |
| wfs1asa11465/sa11465; wfs1bsa16422/sa16422 | Complex | 4 figures from 2 publications | 2 figures from 2 publications |
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Supplemental Information
- Genotyping protocol
- None
- Crouzier, L., Meunier, J., Carles, A., Morilleau, A., Vrigneau, C., Schmitt, M., Bourguignon, J.J., Delprat, B., Maurice, T. (2023) Convolamine, a tropane alkaloid extracted from Convolvulus plauricalis, is a potent sigma-1 receptor-positive modulator with cognitive and neuroprotective properties. Phytotherapy research : PTR. 38(2):694-712
- Crouzier, L., Danese, A., Yasui, Y., Richard, E.M., Liévens, J.C., Patergnani, S., Couly, S., Diez, C., Denus, M., Cubedo, N., Rossel, M., Thiry, M., Su, T.P., Pinton, P., Maurice, T., Delprat, B. (2022) Activation of the sigma-1 receptor chaperone alleviates symptoms of Wolfram syndrome in preclinical models. Science Translational Medicine. 14:eabh3763
- Crouzier, L., Richard, E.M., Diez, C., Alzaeem, H., Denus, M., Cubedo, N., Delaunay, T., Glendenning, E., Baxendale, S., Liévens, J.C., Whitfield, T.T., Maurice, T., Delprat, B. (2022) Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines. Human molecular genetics. 31(16):2711-2727
- Crouzier, L., Richard, E.M., Diez, C., Denus, M., Peyrel, A., Alzaeem, H., Cubedo, N., Delaunay, T., Maurice, T., Delprat, B. (2022) NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome. Molecular therapy. Methods & clinical development. 27:295-308
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