Genomic Feature
uaa12
- ID
- ZDB-ALT-210607-1
- Name
- uaa12
- Synonyms
-
- R122PfsTer118 (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 15: 21658785 - 21658800 (GRCz11) (1) Details
- Nucleotide change
- ACCAACGCTGTCTCTC/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 16 bp deleted in Exon 2 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
CTCAATTTCACAACAGTTATGTGAATGTTTCATATTACTTATAACCCAAATACATATATAAAGGCGGCCCATCAGAAGAACCAGAAAATATGATGGTCGTTTTCATGTTAGCTGAGTAGCACAATTAAGGTATATTTGATATGTGAAATAAGCATGAGCAATTGTTTGCATCCCATAAACACAATCAAACCTCAAACACTCTGCAACACCCCTTTAAAGATATCAAGGTGAATTTCTTTTTATAGAAAATTCTTTAAATGTATAAATAAAACATTAAAAAAAACAAAAAATTCTTTACATTGTGTTCAGTGTTGTGTGTGTCATATTGCTAAGGTAACAGTTCACAATTTAATAGTCATTTAAATTATAATTATTATAAACAAAAGTCATTTAAAGCATATATATTTTCAGCTAGCTGGTCAAAAACTACAAAACTTTCTTGGAATATAATTTAGGAAAAAAAGTGTAATACTCACAGAGCTGGTTTTGGGGTCTGTGGC
ACCAACGCTGTCTCTC/- GCTAACGCTACTATGACGTCACTCTTCTCCCCGGCCCAGTGGACGACCATCTGATTGTGAGAGTCATTCAGGTTGGCCTGTGAATACAAAATATGATGAATAACCAATCTAAATGTTGCTGACTAGCCTCAAGTGATATTTATTTTGCTGTGGTCAGAGAAGCGTCCAGGTTTCCAGGCTGTCATTTCTAAAACTTGATTTTCAAAGACATCTCTTAGTTTCTGCTTCTCTCACCGGGTCATTTTCCAACATTGTAACATTGCATTTGTAATATTAGCTTAAAGGTATGTGTATTTGACAGCCTTAAGTTTGTTGATAGACTCTTGTAAAACACAGCAGGTGTGTCTCCTGCACTTAAGGCGAATAGCCTTTGTGAAAACAAATAAAACCACAAATACACACAAACAGGGAAACAGCGAGCTGAGCTAAACCATAGCGGCAGGAAAACTGAAACTATGGGCTGCGGTGTCCCAATCTGATCTGTTAAACAAAGAAATGTG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| sorl1uaa12/+ | Heterozygous | ♀+/- ♂+/- | |||
| sorl1uaa12/+; sorl1uaa13/+ | Complex |
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Supplemental Information
- Genotyping protocol
- None
- Baer, L., Barthelson, K., Postlethwait, J.H., Adelson, D.L., Pederson, S.M., Lardelli, M. (2024) Differential allelic representation (DAR) identifies candidate eQTLs and improves transcriptome analysis. PLoS Computational Biology. 20:e1011868e1011868
- Barthelson, K., Pederson, S.M., Newman, M., Lardelli, M. (2020) Brain transcriptome analysis reveals subtle effects on mitochondrial function and iron homeostasis of mutations in the SORL1 gene implicated in early onset familial Alzheimer's disease. Molecular brain. 13:142
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