Genomic Feature
hu119
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 7: 14180367 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Trp>Stop at position 411 (1)
- Flanking Sequence
-
ACTCCCACACCGGCACCTCGGCTTCAGCCCCTCTGGCAGCAGGAATCATCGCCCTCGCCCTGGAGGCCAAGTAAGTCGTCCAGAGCTCGGTCTGTCCTGTCCTGTTCTGAAGCGAGGTCATCTTTCTTTATCAGCGCTTTTTGAGTCACCCGAGGCTTTCTAAAAAGACAACCCTAGACTAGAGTTAACCTTCAGATTCTCATTCGGAGCAAACGCATGCATTGAGCTGCATTTTCATTTGTATCTTCCTAAATTAATTCTCCAGCAACACCATAACCTTTATGACTCTACCTGTAGCCATCCGCGACCTTTATTAAAGGGCAAGAGAGATTATCTTGGAAAGCCGTGAAGCATGCGAGCGGTTTTTGTGTTTTGTTCCTCACATTTGAAGGCCACTGACGCTTTTTTTTCTTTCCTCCATAGTAAAAATCTAACCTGGAGGGACATGCAGCATCTGGTTGTGAGGACGTCCAACCCTGCCCACCTCACCACCAATGACT
G/A GAAGATAAATGGAGTGGGTCGGCGAGGTAAAAACCCATCTCGATCATTTCACAGCTCCATTCTTTTTTTTCCCTCCGTCTGCTTTTTCTTTCCACTTCTCAGATACTTGAACGTTTTGTGGCGCGATCGATAGTGTTATCGTTGGACGCACCAATCAGCAAACGGCTCCGGATCTCTTAAAGATCTCAACCTCATTAATTCAGCTCTTATTATGTCAGTCTTTTAAAAGTGCCTCTATTGTTACTTTCAACAGTATTGATTTTTTTTTTTCTCCTACAGTAAGCCATTCTTATGGATATGGTCTGCTGGACGCTGGGGCCATTGTAGCCTTAGCAAAGAACTGGACAAATGTGGGACCTCAGCATAAATGTGTCCTTTCCCTGGTGTCTGAGCCCAGGTAGGTTAAAACACTCCTTAGTTGATGAGTCTTTTAAAGGGATTAGTTCAACTACATGTCATTTTATGCGTCCATGTTAGACTGAATGTCAATTCTGTGGCTT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| furinahu119/hu119 | Homozygous | ♀+/- ♂+/- | 4 figures  from 3 publications | 3 figures from 2 publications | |
| furinahu119/hu119 | Homozygous | ♀-/- | 2 figures from Tessadori et al., 2015 | 3 figures from Tessadori et al., 2015 | |
| furinahu119/+; furinatd204e/+ | Complex | Fig. S1 from Tessadori et al., 2015 |
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Supplemental Information
- Genotyping protocol
- None
- Tessadori, F., Noël, E.S., Rens, E.G., Magliozzi, R., Evers-van Gogh, I.J., Guardavaccaro, D., Merks, R.M., Bakkers, J. (2015) Nodal Signaling Range Is Regulated by Proprotein Convertase-Mediated Maturation. Developmental Cell. 32(5):631-9
- Smith, K.A., Joziasse, I.C., Chocron, S., van Dinther, M., Guryev, V., Verhoeven, M.C., Rehmann, H., van der Smagt, J.J., Doevendans, P.A., Cuppen, E., Mulder, B.J., Ten Dijke, P., and Bakkers, J. (2009) Dominant-Negative ALK2 Allele Associates With Congenital Heart Defects. Circulation. 119(24):3062-3069
- Verhoeven, M. (2009) Bmp signaling is at the heart of vertebrate left-right asymmetry. Thesis. :130p
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