Genomic Feature
uaa9
- ID
- ZDB-ALT-191021-3
- Name
- uaa9
- Synonyms
-
- Q96_K97del (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 17: 51218355 - 51218360 (GRCz11) (1) Details
- Nucleotide change
- CTTCTG/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 6 bp deleted (1)
- Transcript Consequence
- None
- Protein Consequence
- None
- Flanking Sequence
-
TAATGATGTTCTGCACTGTTGAAGGTGAAATATCCAAATGTCTTCCTCTTTCTTTGAGGAACATTGTTTTTCATCATTTCAATCATTTTCTCATGTATTTGGCTGCCGATACTCAGCCCAAATTTGCTCCAAAAGGACTAGACCTTTCTTGGAGCTGCTATGTACAGTGTACCAAATCATAATCACAATCACCTGTTTCACATCACATCTTTATTTCACCAGTTTACCCGATTACCATCCCTAAACTGCTCCTACTCTCTGTCACAACTTTGTCTGGAGTGTGTCGCAGGTCTGAATGACAGGAAAGGATCTATATTTACAAATTAAATTAATTTGACCAGACAAAACTTAATTTTTCTGTAACTCGAAGTACATTTAAAAATCACAACTTTCTTTTGTCATTTGCGTTTTTTATACTGTCACAACCTTTTCTGATTTGGGGTTGTATGGAGTGTGAGGTAAAAGTGTTTTTAGGGAGCTCCTCACAGCTGCTGTCCGTC
CTTCTG/- TGTGTAGAAGCTGACAGATTTGATGGTCGCCACCACCACCACCATGCAGAGCGTGACGGGAATGAACAGCATGATGACGTGCTTCGCCCCATATTTGAGAGTGAGCTCCTCGTCCTCGTCTTCCTCACTGTCTGTGACCACCTGCGGGGGCGGAGCGGTGGGCGGCTGCCCGTTCAGCTCCACCTCATTACGGCTGGGCGGCGCCGCGGTGCTGCTTGTGTGCCGGCTGGTGTCCATCCCATCATTTAGCTGTATGCAGAGAAATGACAGACCTGTTACAGCAAGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTAGGAAATGTAATTTGCTCACCAAGTTGGGTTACAAAATTATATTAAAATTTTTGGCTTTTCTGCTATATAAACATTGAAGTCATAATTATTAGCCGTCCTGTATATTTTTCCCTAATTTTCCCAACTTTTTTCCAACACATTTCTAATCATAATAGTTTTAATA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| psen1uaa9/+ | Heterozygous | ♀+/- ♂+/- | Fig. 2 from Newman et al., 2020 | 4 figures from 2 publications | |
| psen1uaa9/+ | Heterozygous | ♀-/- ♂+/+ | |||
| psen1uaa9/+; y1Tg | Complex | Fig. 1  from Barthelson et al., 2021 |
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Supplemental Information
- Genotyping protocol
- None
- Barthelson, K., Newman, M., Nowell, C.J., Lardelli, M. (2021) No observed effect on brain vasculature of Alzheimer's disease-related mutations in the zebrafish presenilin 1 gene. Molecular brain. 14:22
- Dong, Y., Newman, M., Pederson, S.M., Barthelson, K., Hin, N., Lardelli, M. (2021) Transcriptome analyses of 7-day-old zebrafish larvae possessing a familial Alzheimer's disease-like mutation in psen1 indicate effects on oxidative phosphorylation, ECM and MCM functions, and iron homeostasis. BMC Genomics. 22:211
- Hin, N., Newman, M., Pederson, S., Lardelli, M. (2021) Iron Responsive Element-Mediated Responses to Iron Dyshomeostasis in Alzheimer's Disease. Journal of Alzheimer's disease : JAD. 84(4):1597-1630
- Newman, M., Nik, H.M., Sutherland, G.T., Hin, N., Kim, W.S., Halliday, G.M., Jayadev, S., Smith, C., Laird, A., Lucas, C., Kittipassorn, T., Peet, D.J., Lardelli, M. (2020) Accelerated loss of hypoxia response in zebrafish with familial Alzheimer's disease-like mutation of Presenilin 1. Human molecular genetics. 29(14):2379-2394
- Newman, M., Hin, N., Pederson, S., Lardelli, M. (2019) Brain transcriptome analysis of a familial Alzheimer's disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production. Molecular brain. 12:43
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