Genomic Feature
sh532
- ID
- ZDB-ALT-201117-5
- Name
- sh532
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Renshaw Sheffield Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 13: 7051139 - 7051146 (GRCz11) (1) Details
- Nucleotide change
- TGCCGAGA/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 8 bp deleted (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
GTATACTTTTCTTTAATTTCCATTGTTTTAATGCCACTACAACATTTTTTCTTTCTTTTTTATTCAATTTTCACTGTGTTGTTTTTCATTTTCAGATGGAACACTGCAAAACAGATTTCAGCTATTGGACTCTGCATGGATTATGGTGGGTTTCTCAAGACAGATGTGCATCTTAATGTTTGTCTAACAGTTATTTGCTATTTTAAGATGTAGGTATTGTGTTAGAACATATGTCTTAGGCATTGTCGGTTTCATATAATGACAATTTCATTTCATGACAATAGGGTTCAAAGTATTTAAAGAACATTTTTTTTTGTTATCATTGCAGGCCCAACACTGGTGTAAGGTGCAACACATCTTGGCATTTTAATGCCAGTTTGATTGAGGTATTTGTTTATTTGTCTTGTCCTGTTGCATGTTTTGTCTTTTTAATTTGATATATGATTAAGATGTTGTATGTACGTCTCTTACAGGACATACTACCAGAAATGGAGAAATTC
TGCCGAGA/- TCTGCTAGAACCATCTTCCCCAAAATTTTGGTATGTCAAACCTTGCAAATGCATTTAGGCACTACTATAATCTATTATATTTATTGTTATTATTAGTAGGGATGTCCAGATCCGATCACGTAATCGGAAATTGGGCCCGATCACGTGGTTTTAGACTCGATTGGAATCGGATGTTATCTCCCGATCAGGAAATTCAAACTTGCCATTGCATATCCTGCGATGTGACTATTGTGACTATTATATCGATGCTGAAATTATATTATGTGTAGCCCTAGTTTTTTATTGTGTGCGTTTGTGCTTAGGAATTATGAATGGACGAAACACGGGACCTGTGCTGCAAAATCAGAGTCTTTAAACAGTGAACATAAGTACTTTGGCAAAGCTCTCGAACTCTACCACAAGTTTGACCTTAACAGGTAAGTTCTTCTTTTTTAAGTGGTTTTTGAGTGATGTAATCTGATTTTGTGGCTTATGAAAAATGAGGAAGTTAGTAAAGGAAG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| rnaset2sh532/sh532 | Homozygous | ♀+/- ♂+/- | |||
| rnaset2sh532/sh532 | Homozygous | ♀-/- ♂-/- | 3 figures from Hamilton et al., 2020 | 2 figures from Hamilton et al., 2020 | |
| rnaset2sh532/sh532; sh378Tg | Complex | Fig. S7 from Hamilton et al., 2020 | |||
| rnaset2sh532/sh532; sh378Tg | Complex | Fig. 2 from Hamilton et al., 2020 | |||
| mitfaw2/w2; rnaset2sh532/sh532 | Complex |
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Supplemental Information
- Genotyping protocol
- None
- Rutherford, H.A., Candeias, D., Duncan, C.J.A., Renshaw, S.A., Hamilton, N. (2024) Macrophage transplantation rescues RNASET2-deficient leukodystrophy by replacing deficient microglia in a zebrafish model. Proceedings of the National Academy of Sciences of the United States of America. 121:e2321496121e2321496121
- Hamilton, N., Rutherford, H.A., Petts, J.J., Isles, H.M., Weber, T., Henneke, M., Gärtner, J., Dunning, M.J., Renshaw, S.A. (2020) The failure of microglia to digest developmental apoptotic cells contributes to the pathology of RNASET2-deficient leukoencephalopathy. Glia. 68(7):1531-1545
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