Genomic Feature
hu10742
- ID
- ZDB-ALT-190308-1
- Name
- hu10742
- Synonyms
-
- Pln_ZF.R14Del (1)
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Bakkers Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 20: 41915863 - 41915865 (GRCz11) (1) Details
- Nucleotide change
- CCG/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 3 bp deleted (1)
- Transcript Consequence
- None
- Protein Consequence
- None
- Flanking Sequence
-
CCGAAAGTATGCACTTCTCATTGTTTTCCCCTTATTCACCATCTTTTTTCAAAGTATTCATGTAATTCTGCCTTAATATTTGGCCCATAATTTTATTAAATTACAGATTTAAATTATGTTACTCATATATCACATATATTTGCATTTCATGAGCCAGATCTTTTATCCACTTAAAATCCTCCAACACACCAATAATTAATGCCTATTATTATCCCTACCCTCCTAACCTCTAAATGTGTACTATTTACAAACAAATAATGCATTGTAGAACCCAACTACTCTAAACCCTTTATAAATAATAACCCCCCACTCCCCTTAACGCCGCGATTGGCCCCCAATGTACAGTCCTTCGCTCTCATTGGCTAGAGGGAGACCCAACCCGCTCACATTAGCAACACAATGATGTAGATGAGCAGCAGGCAGATGAGGATGAGGCAGAAGTTGACGAAGAGCTCCTGCATGTTCTGCTTGGCCTGTTGGGGAACCTCCATGGTGGACGC
CCG/- CCGAATGGCCGCCCGTGTCATGTGCTGCACCTTCTCCATAGCGAGCCGTGGGGCTTGTGGGTGGGTGGGATGAATGGATTAGTGCATAGAGAGAGAGGAGAAGAAGGAGAGATGGCAGTGGAGAAAGGAGTGCTGGATGTTGTGGTGATGGAAGAGGTGATCCGGATGCCGGTGGACCACGTGGAGGCTGAAGAAGCAGATGAAAGAGTGAATGTGCATGCGGAATTCACACGTGACATGCAGGATTGCTAGAAGTTTCAGGAGAATAGTTCATCTGTCATTACAGCATTAAGATTCTGACAGTATGATAACCTTGGATAAAAATATCATGTATTGTGATTACTGCTCTAAAATATGTTCTTAAATGGCTTAGTAAGAAAACAACACCTTTTCCACCCATTGAACACCTTCACATTTAAAAAAAAAAAAAAAACATTTAAATTATTTTAGAACAGAAAACATGTCAGGCTAAATAATTTAATTAATAAATCATTAACTTC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| pln1hu10742/+ | Heterozygous | ♀+/- ♂+/- |
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Supplemental Information
- Genotyping protocol
- None
- Kamel, S.M., van Opbergen, C.J.M., Koopman, C.D., Verkerk, A.O., Boukens, B.J.D., de Jonge, B., Onderwater, Y.L., van Alebeek, E., Chocron, S., Polidoro Pontalti, C., Weuring, W.J., Vos, M.A., de Boer, T.P., van Veen, T.A.B., Bakkers, J. (2021) Istaroxime treatment ameliorates calcium dysregulation in a zebrafish model of phospholamban R14del cardiomyopathy. Nature communications. 12:7151
- Tessadori, F., Roessler, H.I., Savelberg, S.M.C., Chocron, S., Kamel, S.M., Duran, K.J., van Haelst, M.M., van Haaften, G., Bakkers, J. (2018) Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders. Disease models & mechanisms. 11(10):
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