Genomic Feature
sa10150
- ID
- ZDB-ALT-130411-138
- Name
- sa10150
- 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)
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Zebrafish International Resource Center (ZIRC) ( order this ) - Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 1: 9865443 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A (1)
- Transcript Consequence
- Splice Site (1)
- Protein Consequence
- None
- Flanking Sequence
-
TTTTTTTTTTTTAAATATACATCTATGAGGCAGCATGGTGGACCCCGCTGGGCCAGTTGGCATTTCTGTGTGGAGTTTGCATGGGTTTCCTCAGGGTGCAACTAAATTGGCCGTTGTGGATTAGTGCGCGAGTGTATGGGTGTTTCCCAGTACTGGTTGCAGCTGGAAATGCTTAAACGTATGCCAGAATAGTTGACGGTTCATTCCACTGTGGCGACTGCTGATAATTAAGGAAAATAAATTGATGAAATATAAATCTATATTCAATAGTTTTTGGATAAATTTGATGAAAGGTTCCAATTCAGAATGTGATTTTAATTTGCTGTACATTTATTTTATATACATAAACATTTGTAATAAATAGATAAACCACAATATTTATGTTATTATTACGTTTCAGAGGCACATTTATTGAATTTCGGAATGGAATGCTGAATGTCTCTCCGATCGGTCGAAGCTGCAGCCAACAGGAAAGAATCGAATTCTTTGAACTTGATAAG
G/A TTGTTTGTTTTACACATGTATCAACACACAATGCCCTAATCTTCTTAAAGGATGCCATCTAAAGTTTAATTAAATGTATGTTTTTATGCAGAAGGAGAAGATTAGAGAAACATTTGTCTCCGTTTTAAAAGAAGAGTTTGCTGGGAAGGGACTAGCTTTCTCCATTGGTAAGAAACGAGTGTTAATGAATCTTTTAATGTGCCGTCAAATTATTTTTCTAAATAATACGAAGTTTGCACTGAATATATTTGACATAATACTGTCATTCTTACACTAAATTACAGACTGTGTTTTCTGTAAATCATGCTATAAATATATGAAAGTCATTATTTTACATGCATTTAATCTACATGAAAAAATGTAGCACTGCTACTTTCTTCCTTGAAATGATGCTTGTCTTTGACTCATGTATGTATTTTTCCCTGCAGGTGGACAGATCAGTTTTGATGTGTTTCCAGAAGGCTGGGATAAGCGCTACTGTTTGGGAATTGTGGAGAAAG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| pmm2sa10150/sa10150 | Homozygous | Unknown | 5 figures  from Klaver et al., 2021 | Figure 1 from Klaver et al., 2021 | |
| pmm2sa10150/sa10150; y1Tg/y1Tg | Complex | 2 figures from Klaver et al., 2021 | |||
| pmm2sa10150/sa10150; y1Tg/y1Tg + MO1-furina | Complex | 2 figures from Klaver et al., 2021 | |||
| pmm2sa10150/sa10150; y1Tg/y1Tg + MO1-furina + MO5-mmp2 | Complex |
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Supplemental Information
- Genotyping protocol
- None
- Radenkovic, S., Ligezka, A.N., Mokashi, S.S., Driesen, K., Dukes-Rimsky, L., Preston, G., Owuocha, L.F., Sabbagh, L., Mousa, J., Lam, C., Edmondson, A., Larson, A., Schultz, M., Vermeersch, P., Cassiman, D., Witters, P., Beamer, L.J., Kozicz, T., Flanagan-Steet, H., Ghesquière, B., Morava, E. (2023) Tracer metabolomics reveals the role of aldose reductase in glycosylation. Cell reports. Medicine. 4(6):101056
- Klaver, E.J., Dukes-Rimsky, L., Kumar, B., Xia, Z.J., Dang, T., Lehrman, M.A., Angel, P., Drake, R.R., Freeze, H.H., Steet, R., Flanagan-Steet, H. (2021) Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis. JCI insight. 6(24):
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