Genomic Feature
uaa7
- ID
- ZDB-ALT-190304-6
- Name
- uaa7
- Synonyms
-
- N140fs (1)
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Lardelli Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 1: 51056753 - 51056759 (GRCz11) (1) Details
- Nucleotide change
- GAGTGTT/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 7 bp deleted (1)
- Transcript Consequence
- None
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
CCCAACAATAAAGCGACAGGACTGTAATCGGACTACATTCACACATGCCATGCTTGAGCAGGCTGTGAATTAAAGCTGATAACATTGTAAATAATGTTTAATTTTTTGACACGGACCGCTCATTTGGCTTTACAAGACCTCAGTGTGTCATCAGGAACCACAACAATTGATTTGGTCTTATTTGTATACATTTTATTTTTATCTAAAATTCACTACATGAATCACCAAGGACCACTGATTCAGCTCAAAATCTTTAATCCAAAATGTTCTACTGAAGAAAGAACCTGTGGGTGAGTAAATTAACAGGGTGTTTTCATTTTTGGGTGAACTATCCCTACTGTATTAGTAGATTAATGAAGGGAATATGAGGGTATAAAGATGATTTTGATAACAGCAATAGTTTTATAGTAAGAGTAAAGCAGGTCTCACTTTATAGCAGCGGTACTTGTAGAGCAGCACCAGGATGATGGTCATGAAGACAATCACACTGATCATGACCA
GAGTGTT/- GAGCACCGAATTCAGCAGACGCTGGCCCACTGAGTTCGGGTCTTCTTCAAATGGGGTATAGATGCTGAAAAATACAAACATACACCCTTGAATCAAGGTGATGCTTTTGTTTTATTGTTGCACAGTATGCTGTTCAGCTAGGGACTAAAGCTATGAAAGTAATGGCTGTTTTGTTATTTGGGAAAAAATTAAATTAAATAAAATGAAATGGTTCACATAAATATAAAAGGTAAAAAAATTATGTAAAGTGGCTACCCCTAATAAAGAAAGTAATGAGATGAGGAGAGTACTAAAACAAAACAAAACCCAAAACAAAGAAAAAACAACAACAAAAACAACAAAACAAAAAGCAAAAAAAAAACAAGCAAAAACACAAAACTAAACAAAAAACAAAACAAAAAAATAAGCAATGAACAAAACAAAAGAGAAACAAAACTAAACAAAAACAAAACAAAAACATAAAACAAACAAAAACTAAACTAAACAACTAAAAAAACAAA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| psen2uaa7/uaa7 | Homozygous | ♀+/- ♂+/- | 2 figures  from 2 publications | ||
| psen2uaa7/+ | Heterozygous | Unknown | Fig. 5 from Jiang et al., 2018 |
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Supplemental Information
- Genotyping protocol
- None
- Barthelson, K., Pederson, S.M., Newman, M., Jiang, H., Lardelli, M. (2021) In-Frame and Frameshift Mutations in Zebrafish Presenilin 2 Affect Different Cellular Functions in Young Adult Brains. Journal of Alzheimer's disease reports. 5:395-404
- Jiang, H., Pederson, S.M., Newman, M., Dong, Y., Barthelson, K., Lardelli, M. (2020) Transcriptome analysis indicates dominant effects on ribosome and mitochondrial function of a premature termination codon mutation in the zebrafish gene psen2. PLoS One. 15:e0232559
- Jiang, H., Newman, M., Lardelli, M. (2018) The zebrafish orthologue of familial Alzheimer's disease gene PRESENILIN 2 is required for normal adult melanotic skin pigmentation. PLoS One. 13:e0206155
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