Genomic Feature
hu1667
- ID
- ZDB-ALT-110210-1
- Name
- hu1667
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- Lab of Origin
- Schulte-Merker
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 5: 492182 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
-
This mutation causes a CAG to to TAG resulting in a Q982STOP substitution.
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Gln>Stop at position 982 (1)
- Flanking Sequence
-
CCCACACAAAAACATCATACACCTGCTGGGAGCCTGCGAACACAGAGGTCAGCGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTCCTGCAGGCTGAGCCGCTCCTCATGCTGTGTGTGCTCTGCAGGTTACCTGTATCTGGCCATCGAGTTTGCTCCTCATGGGAACCTGCTGGACTTCCTGCGCAAGAGTCGTGTTCTGGAGACCGACCCGGCCTTCGCCATCGCCCACCGCACCGCCAGCACACTCTCCTCACAGCAGCTGCTGGCCTTCAGTGCAGACGTGGCCCGCGGGATGAGCTATCTGAGCCAGAAACAGGTGAGAGAGAGTGTGTATGTGTGTATAGGTGAGGCGTGTGGATGATACCTGCAGGACTGATGTTCTCCATCACACACACTCTGCTTCATCTCCCCAGTTCATACACAGAGATCTAGCGGCTCGAAACGTCCTGGTGGGAGAGAACTTTGTGGCGAAGATCGCAGACTTCGGGCTGTCCAGAGGT
C/T AGGAGGTGTACGTCAAGAAGACCATGGTAAAGATCAGGCGAGAGTCTGCACCAGCACTCACACTGAAGGGTGCAGGTTTGAGTCCGGCTGGCCCTGGAGTGTTTCTGTGTGCAGTTTGCATGTTCTCCCCATGTATGGGTGTATGTGTGTTTCCCAGTGCTGGGTTGCAGCTGGAAGGGTATCCGCCACATGACACATGTGATGAGGGATGAGAAATGTCATGGATCAACATTTACTGAGAAAACTAGATGGACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACGTCTGTCAGTGAAATCTGCTGCAGTAGTCTTTAAATGCCAGTGGCTCATGAAAGAGAAAATACTAAAGAAACTTCCAACTCGAGCATCATTACAGATGAACATCATGAATCTTCACACGGTGTCGGCTGCTGACTCCAGAACAGACCGTCTGGCATTAATGGCCAAAACAATCA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| tekhu1667/hu1667 | Homozygous | Unknown | 2 figures  from Gjini et al., 2011 | 2 figures from Gjini et al., 2011 | |
| tekhu1667/+ | Heterozygous | Unknown | Fig. 1 from Gjini et al., 2011 | ||
| tekhu1667/hu1667; s843Tg/+ | Complex | Fig. 1 from Jiang et al., 2020 | |||
| tekhu1667/hu1667; y1Tg | Complex | 2 figures from Gjini et al., 2011 | 2 figures from Gjini et al., 2011 | ||
| tekhu1667/hu1667 + MO2-tie1 | Complex | Fig. 3 from Gjini et al., 2011 | Fig. 3 from Gjini et al., 2011 | ||
| tekhu1667/hu1667; y1Tg + MO2-tie1 | Complex | Fig. 2 from Gjini et al., 2011 | Fig. 2 from Gjini et al., 2011 |
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Supplemental Information
- Genotyping protocol
- None
- Chen, Y.C., Martins, T.A., Marchica, V., Panula, P. (2024) Angiopoietin 1 and integrin beta 1b are vital for zebrafish brain development. Frontiers in Cellular Neuroscience. 17:12897941289794
- Pham, V.C., Rödel, C.J., Valentino, M., Malinverno, M., Paolini, A., Münch, J., Pasquier, C., Onyeogaziri, F.C., Lazovic, B., Girard, R., Koskimäki, J., Hußmann, M., Keith, B., Jachimowicz, D., Kohl, F., Hagelkruys, A., Penninger, J.M., Schulte-Merker, S., Awad, I.A., Hicks, R., Magnusson, P.U., Faurobert, E., Pagani, M., Abdelilah-Seyfried, S. (2024) Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations. EMBO Molecular Medicine. 16(11):2827-2855
- Hußmann, M., Schulte, D., Weischer, S., Carlantoni, C., Nakajima, H., Mochizuki, N., Stainier, D.Y.R., Zobel, T., Koch, M., Schulte-Merker, S. (2023) Svep1 is a binding ligand of Tie1 and affects specific aspects of facial lymphatic development in a Vegfc-independent manner. eLIFE. 12:
- Jiang, Z., Carlantoni, C., Allanki, S., Ebersberger, I., Stainier, D.Y.R. (2020) Tek/Tie2 is not required for cardiovascular development in zebrafish. Development (Cambridge, England). 147(19):
- Gjini, E., Hekking, L.H., Küchler, A., Saharinen, P., Wienholds, E., Post, J.A., Alitalo, K., and Schulte-Merker, S. (2011) Zebrafish Tie-2 shares a redundant role with Tie-1 in heart development and regulates vessel integrity. Disease models & mechanisms. 4(1):57-66
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