Genomic Feature
ue58
- ID
- ZDB-ALT-210122-10
- Name
- ue58
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- David Lyons Lab
- Current Source
- Other Pages
Notes
| Comment | Citation |
|---|---|
| Despite the severe derangement of myelin and extensive nerve edema, ue58 ... | Marshall-Phelps et al., 2020 |
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 8: 200767 (GRCz11) (1) Details
- Nucleotide change
- T/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- A>T in Exon 26 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
AGAGTGTCACTTTTTTTCTCCTCTAAGGTCTTATTATGCGGTCTCTGTCACCATCTTGTGGTGGAACCCCAACTATTTTCGCTCAGCTCAGTATGATAGACTGATGGATGCCAATAATGGATGCCAATGCAGTGAATCTCTGAAAATATAAATATTTAAAATAGGCACTGTCCTTATAAAGAAACTGTTGCAGTCTAAACAACTACATTCTCACCTAAAAAGGCTCAACAGTCCGTGCTGTTGTCCAGCAGCTGCAATATAAGTCAAACTCTAGTGAGTTTATTGATCTGCTGTCACTCTATGTGGGCGGAGGGATACACAAGGGTGAAGAGGCTGTAAGAGTGCTGTTATTGCAGAATATCACATGGCTATTAGCCAATCAGAGAACCGGACAGAACTGTTGTATAAATATACAATACACACTGAATATGCACTGACCTGCACATGTGAAGTCTCTGGCTGATGTTTGTGTTTGTTTGGTCTCATCAGCACCATGCCGT
T/A GGCCAGAAAGGGGACGGTGTCCAGCGCGCTCTACATGTCCTGGCTGGACACGCTGTCCAAAGATCTGCCTCCGATTCTTCTGGTCCGAGGAAACCATCAGAGCGTTCTGACCTTCTACTCCTGAACACAGACACAATCAGGACACTTGCAGAACTCCTAACCCCAAAACTGCTCTAACATCTAACACACTGAGCACAGATCTTCTCAGTTATTTGTAAATATGTTTATTAATGACTCTTATTCTAGAAGAAGCATGTGAAGCAGTAGGTGCGTCCCACATCCTGTATTTATTCACTATTCTACGCCATATTTCAGGATAAATCGTGTGCGTTCATGCTGATGATCAAATAATAATAACTCCGAAAGAAGAGGCACACTTCACATCGCCAGGGAGGAGCCACTGATATAGAGGAGGAGCTGATGGTGAAGGGGAGGGGCTACTGATTCAGATGAAGAGCTATGGGTGACGAGGAGGAGCTAATGATAGAGGAGCAGCTAAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| slc12a2lue58/ue58 | Homozygous | ♀+/- ♂+/- | 2 figures  from 2 publications | ||
| slc12a2lue58/ue58; ue2Tg | Complex | 3 figures from 2 publications | 2 figures from Marshall-Phelps et al., 2020 | ||
| slc12a2lue58/ue58; ue2Tg; ue3Tg | Complex | Fig. 2 from Marshall-Phelps et al., 2020 | Fig. 2 from Marshall-Phelps et al., 2020 |
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Supplemental Information
- Genotyping protocol
- None
- Moyon, S., Frawley, R., Marechal, D., Huang, D., Marshall-Phelps, K.L.H., Kegel, L., Bøstrand, S.M.K., Sadowski, B., Jiang, Y.H., Lyons, D.A., Möbius, W., Casaccia, P. (2021) TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice. Nature communications. 12:3359
- Marshall-Phelps, K.L.H., Kegel, L., Baraban, M., Ruhwedel, T., Almeida, R.G., Rubio-Brotons, M., Klingseisen, A., Benito-Kwiecinski, S.K., Early, J.J., Bin, J.M., Suminaite, D., Livesey, M.R., Möbius, W., Poole, R.J., Lyons, D.A. (2020) Neuronal activity disrupts myelinated axon integrity in the absence of NKCC1b. The Journal of cell biology. 219(7)
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