Genomic Feature
hu1795
- ID
- ZDB-ALT-110920-1
- Name
- hu1795
- Synonyms
-
- C54X (1)
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- ENU
- Lab of Origin
- Hubrecht Institute
- Current Source
- European Zebrafish Resource Center (EZRC) ( order this )
- Other Pages
Notes
| Comment | Citation |
|---|---|
| hu1795 is a cytosine to adenine mutation at nucleotide position 162 of the ... | Klaassen et al., 2011 |
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 16: 33158214 (GRCz11) (1) Details
- Nucleotide change
- C/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>A at position 162 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Cys>Stop at position 54 (1)
- Flanking Sequence
-
GAAAAATGGTGGAAAGTTTTTTGTTATCATGTTGGTCTGCCATTAATCTAAATTTTGTTGGAGAGATTGGGTTTTTGTACTTGACTTTCAGCTTATAAAATGTTTTGAAACATAGGGTTGAGACTTTTGTCTGGATTTATTGTTTGCATATTTGTGTGAGGTTACTGTTGGAAAACAATGATTTTAAATTAAAGCTCTCAAACATTTAAATAACAGTTTCATACTCTGGTTGATTTAATTTCAATATATTTTCATATTCAAAAGCAATTTCCCATGGTCTAGGTTCATGTTTCTTTCTTCTTATTTTGTCTTTACAGACACAAAAAAGCCCGAGTAAAGATGGGAGACTGGAACTTTCTTGGTGGGATTTTGGAAGAAGTGCATATCCACTCTACCATGGTGGGAAAAATCTGGCTCACAATCCTCTTCATATTTCGCATGCTGGTGCTTGGTGTGGCAGCGGAGGATGTGTGGAATGATGAACAGGCTGACTTTATCTG
C/A AACACCGAGCAGCCTGGTTGCCGCAATGTGTGCTATGATAAAGCTTTCCCCATTTCCCTAATCCGTTACTGGGTTCTGCAGGTCATATTTGTGTCCTCTCCCTCACTGGTGTACATGGGCCATGCCCTCTACCGCCTCCGTGCTCTTGAGAAGGAGCGTCAGCGCAAAAAGATGGCACTGAGACGAGAACTTGAGGGTGTGGATGTGGAGATGGCGGAGGTACGGCGCAAAATAGAACGTGAGCTTCGGCAGATCGACCAGGGGAAATTAAACAAGGCTCCATTGAGGGGGTCTCTTCTGCGCACATACGTGGCTCACATAGTCACCCGCTCAGCTGTAGAAGTATTCTTCATGACAGGACAATATGTTCTGTATGGGTTTCAACTGAATACACTGTACAAATGTGAACGGGAGCCTTGTCCCAATGCAGTGGATTGCTTTGTATCTCGACCCACTGAGAAAAGCGTCTTCATGGTGTTCATGCAATGCATAGCTGGCAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| gja9ahu1795/hu1795 | Homozygous | ♀+/- ♂+/- | 4 figures  from Klaassen et al., 2011 | 2 figures from Klaassen et al., 2011 | |
| gja9ahu1795/hu1795 (TL) | Homozygous | ♀+/- ♂+/- | Fig. 1 from Vroman et al., 2014 | ||
| gja9ahu1795/hu1795; panx1anhi6/nhi6 | Complex | 4 figures from Cenedese et al., 2017 |
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Supplemental Information
- Genotyping protocol
- None
- Cenedese, V., de Graaff, W., Csikós, T., Poovayya, M., Zoidl, G., Kamermans, M. (2017) Pannexin 1 Is Critically Involved in Feedback from Horizontal Cells to Cones. Frontiers in molecular neuroscience. 10:403
- Vroman, R., Klaassen, L.J., Howlett, M.H., Cenedese, V., Klooster, J., Sjoerdsma, T., Kamermans, M. (2014) Extracellular ATP hydrolysis inhibits synaptic transmission by increasing ph buffering in the synaptic cleft. PLoS Biology. 12:e1001864
- Klaassen, L.J., Sun, Z., Steijaert, M.N., Bolte, P., Fahrenfort, I., Sjoerdsma, T., Klooster, J., Claassen, Y., Shields, C.R., Ten Eikelder, H.M., Janssen-Bienhold, U., Zoidl, G., McMahon, D.G., and Kamermans, M. (2011) Synaptic transmission from horizontal cells to cones is impaired by loss of connexin hemichannels. PLoS Biology. 9(7):e1001107
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