Genomic Feature
hu1960
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 2: 59052167 (GRCz11) (1) Details
- Nucleotide change
- C/A
- Variant Notes
-
A C-to-A substitution leads to a premature stop codon in the kinase domain.
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>A (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
AGAATTCAGATCAGATTCAGCACAGCGTTCAGATCAGATTCAGCACAGAATTCAGATCAGATTCAGCACAGTGTTCAGATCAATGCAGTTGATCTTTATTTGTACAGCACTTTTACAATGTAGATTGTGTCAAAGCAGTTTCAGATAATGGATCATGGTTGCTGGAACACCTTTACCCTGTAGAAGATTGTTAGAGAAGCTAGAGTAGACTGCTTATTTTTCAGACGCGCTGGGCGGAGTCGCACTGTTAGGACCGCCCATTTTTTTCAGAAGCGCTGATTATTTGTGGTTTGCAAATGTTTGTTTTAAATAAAAATGTATTGATATGTTTATTTATTATGTAAGATTTTTCTTCTATCAGTCACATATACATGATAAATATCTATATAAAATACACACATATATTATGTCAACTTTTATTTTGGATGCGATTTATCTTTGCACTAGTTTTCACAGATATGTAAATAAATAAATAATTAAAGTGTGTCCGCTCACAGATA
C/A AACATCACCACGAGCCTGTACCCGTTTGAGGGAGACAACATCTATAAGCTATTTGAAAACATTGGGAAAGGAGATTACAGCATCCCGGAGGAGTGCGGCCCGCTGCTCTCAGACCTGCTGAGGGGTAAATATACCACATTTACTCTCTCTTTAAGGGGCAGTTCACACACACATCTACCTTCTGACAATATTTCCTGAGTTTCCTCTGCTGAACACAAAGGAACCTATAGTGACGCATGCTGGACAATATAATCATAGCCTTTCTGCTCTTCCTTTGGCTCTGAATGCATTTTAAATGAACATTGAATTTTGCTTTAATCGTCTTGAATGAGCGTAAATAACATTGAAATGATCATTTTGCGTCAGTTTTACATGCTTTAATTCAATCCGGGTATTTCATTTTCAATTTAATTTTGACACCTTTTAAATCATTACAATTAGTAGGTGATTTTACACGTTAAAAGGGTTTACAGGTTGTAAACTGCAAATGTAAATTATAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| stk11hu1960/hu1960 | Homozygous | ♀+/- ♂+/- | 6 figures  from van der Velden et al., 2011 | 3 figures from van der Velden et al., 2011 | |
| stk11hu1960/hu1960; vhlhu2117/hu2117 | Complex | text only from van der Velden et al., 2011 |
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Supplemental Information
- Genotyping protocol
- None
- Asaoka, Y., Terai, S., Sakaida, I., and Nishina, H. (2013) The expanding role of fish models in understanding non-alcoholic fatty liver disease. Disease models & mechanisms. 6(4):905-914
- van der Velden, Y.U., Wang, L., Zevenhoven, J., van Rooijen, E., van Lohuizen, M., Giles, R.H., Clevers, H., and Haramis, A.P. (2011) The serine-threonine kinase LKB1 is essential for survival under energetic stress in zebrafish. Proceedings of the National Academy of Sciences of the United States of America. 108(11):4358-4363
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