Genomic Feature
umc4
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 13: 7051455 (GRCz11) (1) Details
- Nucleotide change
- T/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Tyr>Stop (1)
- Flanking Sequence
-
TTATCATTGCAGGCCCAACACTGGTGTAAGGTGCAACACATCTTGGCATTTTAATGCCAGTTTGATTGAGGTATTTGTTTATTTGTCTTGTCCTGTTGCATGTTTTGTCTTTTTAATTTGATATATGATTAAGATGTTGTATGTACGTCTCTTACAGGACATACTACCAGAAATGGAGAAATTCTGGCCAGATCTGCTAGAACCATCTTCCCCAAAATTTTGGTATGTCAAACCTTGCAAATGCATTTAGGCACTACTATAATCTATTATATTTATTGTTATTATTAGTAGGGATGTCCAGATCCGATCACGTAATCGGAAATTGGGCCCGATCACGTGGTTTTAGACTCGATTGGAATCGGATGTTATCTCCCGATCAGGAAATTCAAACTTGCCATTGCATATCCTGCGATGTGACTATTGTGACTATTATATCGATGCTGAAATTATATTATGTGTAGCCCTAGTTTTTTATTGTGTGCGTTTGTGCTTAGGAATTA
T/A GAATGGACGAAACACGGGACCTGTGCTGCAAAATCAGAGTCTTTAAACAGTGAACATAAGTACTTTGGCAAAGCTCTCGAACTCTACCACAAGTTTGACCTTAACAGGTAAGTTCTTCTTTTTTAAGTGGTTTTTGAGTGATGTAATCTGATTTTGTGGCTTATGAAAAATGAGGAAGTTAGTAAAGGAAGCAAGATAATAGTGGATGGATTCAGTACATCGATGCACCTGATTGAAGCCTTATTCAGACCCTTTGCTAAAGAAGTGACTTACACTTGTCATATTGTATAAGTCTAATTTTATGTCCTCTCCTTAAAGGGATACTTCACCCCAAAATTTTAATTTACTCGAGTGGTTTCAATCCTTTATTAGTTTCTTTATTCTGTTAACCACAAAGTAAGATATTTTGAAGAATGCTGAAAAACTGTAACTATTGACTTCCAAGGTAAGTAAAACAAATACTGTGGAAGTCAATGGTTACAGGTTTTTAGTAGGGGTGT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| rnaset2umc4/umc4 | Homozygous | ♀+/- ♂+/- | 4 figures  from Haud et al., 2011 |
1 - 1 of 1
Show
Supplemental Information
- Genotyping protocol
- None
- 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
- Haud, N., Kara, F., Diekmann, S., Henneke, M., Willer, J.R., Hillwig, M.S., Gregg, R.G., Macintosh, G.C., Gärtner, J., Alia, A., and Hurlstone, A.F. (2011) rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA. Proceedings of the National Academy of Sciences of the United States of America. 108(3):1099-1103
1 - 2 of 2
Show