Genomic Feature
sa1621
- ID
- ZDB-ALT-120411-225
- Name
- sa1621
- 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
- Zebrafish International Resource Center (ZIRC) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 16: 14220439 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A in Donor Splice Site of Exon 4 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
GTGAGAATAATACATTTGTCGACCAGTTGTGAGTTTTCTGTGTACATATTATACATTTGTTAAATAAATCTAATTATACATAATTTTCCAGCCAAATGCTAAACGCTTTTTCTCTCCTTTTCTGAACGCCAGCTCTCAGAATCACTCTGAACCCCAGTCAGAAGTTCCAGCACATTAAGGGATTCGGGGGAGCCATGACGGATGCAGCAGCCATTAATATTTTGTCTCTGTCTTCCGGAGCTCAGGACCAGCTGCTCAGACAGTACTTCTCCACAGATGGTGAGAGCAACAGAGATTGAGCAAGTGGAAATGAAAATGGCCTCGGCTTTCTCAGTTCCGAATGGTGTACATCGCTCTGTTTCACAGGTATAGAGTACCGTTTCGTGAGAGTGCCGGTGGCCAGCTGTGATTTTTCAACTCGACTCTACACGTATGCTGACACTCCAGAAGACTACGATCTCCAGAACTTCACCCTGGCCAAAGAGGATGTTCACATGAAG
G/A TAGCATACACAAACAAAAACACACCTTACTACAAATAGCGGTCTGCAGTAGTACTCGCTTGAGGGTAAATATTGCGTAAATAGTGATTTGATTTTCATTTTTGAGGGAACTTTCCCTTTAAGTGTTCATGTCAATGCATTAAAAATACAATTTACTCAACATTTTGCTACCTTTCGGGTCAGAATGTATTTTAAAGTAGTTATTGATTTTTACATGTTTTAAATTAATATAATATTTAAATTATCTATATGTGTTATTTACAAAAAAACATACTAGAAAATTACTAGAAAAAAACTTTGTTTTAAAATGGCAAATGTTCGTTTTTATCATTTCATTTTCATTTTGCGTCAAACTTCGCACATCATGCGAAGAATGCAAATTTAAATACAGCAATACAATGCAAAAGTACATTTTGCTTATCGTATTTATTATTCAAAAGAAGGTAATGATTCGCACTCAATTGCTTCATACTGTTTTTATTTGTACTTTTTCTTACATTT - Additional Sequence
- None
Fish
Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
---|---|---|---|---|---|
gba1sa1621/sa1621 | Homozygous | ♀+/- ♂+/- | Fig. 1 from Zancan et al., 2015 | Fig. 1 from Zancan et al., 2015 | |
gba1sa1621/sa1621 (AB) | Homozygous | ♀+/- ♂+/- | Fig. 5 from Costa et al., 2020 | ||
gba1sa1621/sa1621 (TL) | Homozygous | ♀+/- ♂+/- | text only from Busch-Nentwich et al., 2012 | ||
gba1sa1621/sa1621; gz15Tg | Complex | Fig. 2 from Zancan et al., 2015 | Fig. 2 from Zancan et al., 2015 | ||
gba1sa1621/sa1621; ia4Tg | Complex | Fig. 4 from Zancan et al., 2015 | Fig. 4 from Zancan et al., 2015 |
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Supplemental Information
- Genotyping protocol
- None
- Fan, J., Hale, V.L., Lelieveld, L.T., Whitworth, L.J., Busch-Nentwich, E.M., Troll, M., Edelstein, P.H., Cox, T.M., Roca, F.J., Aerts, J.M.F.G., Ramakrishnan, L. (2023) Gaucher disease protects against tuberculosis. Proceedings of the National Academy of Sciences of the United States of America. 120:e2217673120e2217673120
- Costa, R., Bellesso, S., Lualdi, S., Manzoli, R., Pistorio, V., Filocamo, M., Moro, E. (2020) A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models. Human molecular genetics. 29:285
- Zancan, I., Bellesso, S., Costa, R., Salvalaio, M., Stroppiano, M., Hammond, C., Argenton, F., Filocamo, M., Moro, E. (2015) Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling. Human molecular genetics. 24(5):1280-94
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