Genomic Feature
tx218
- ID
- ZDB-ALT-980203-1195
- Name
- tx218
- Synonyms
-
- AX18A (1)
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Nüsslein-Volhard Lab
- Current Source
- European Zebrafish Resource Center (EZRC) ( order this )
- Other Pages
Notes
Comment | Citation |
---|---|
tx218 has a T>A missense mutation in exon 17 of atp1a1a.1, encoding an α1 ... | Pott et al., 2018 |
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 1: 1723677 (GRCz11) (1) Details
- Nucleotide change
- T/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A in Exon 17 (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Asn>Lys at position 851 in RefSeq:NP_571761 (1)
- Flanking Sequence
-
GGCTATGGGTATTGCTGGATCTGACGTATCCAAACAGGCTGCTGACATGATCCTTCTGGACGACAACTTTGCCTCAATTGTCACTGGAGTAGAAGAAGGTATGTCATATTTTGGGAACTTGCTTTGACTGAATAATTCTGAAGAGTCAAATCTCAAACATATCTTCCATATGTTTAGGTCGTCTGATCTTCGACAACTTAAAGAAGTCCATTGCCTACACACTGACCAGTAACATCCCCGAGATCACCCCTTTCCTTCTGTTCATCATTGCTAATATTCCTCTACCTTTGGGCACCGTCACCATTCTCTGTATTGATCTGGGTACCGACATGGTAAGCACTGCATTTGATTGGTTCTATTTAATAGCTGGTTGGTGAGGTTAATAAATGATATTGTCCTGTTATCGTCAAGGTTCCTGCCATCTCATTGGCCTATGAAGCTGCCGAGAGTGACATCATGAAGCGTCAACCCAGAAACCCCAAAACAGACAAACTTGTGAA
T/A GAGAGGCTCATTAGCATAGCCTACGGTCAGATCGGTAAGCATCTCAGATGCTCTATTAAAGGCATGGTTCACCCAAAAACTCGTCGTTTACTCAACCTTCTCTGGTCACTATTTGACTTTCTTTCTGCTGTTGAACACCGAAGAAGATATTGTAAAGAAATCTGGAACCATTTAACCATTGACTTCCATAGTAGGATTAACAAATACTATTGAAGTCAATGGTTGGTTTCTCTTCTTTCTTCAAAATACCATATTTAAAAGGTTCCCAATTGAAGTTGGGTAAATCTTTCATTTTTGGGTGGACTTGATCTGTTGGTGTTCACCAGGTGTGTACTGTAGACTTTGAGGATTGAATCCCAATGCTTCTGCTTTCCCCACAGGTATGATTCAAGCTCTGGCTGGGTTCTTCACATATTTTGTCATCTTGGCTGAAAATGGCTTCCTACCATCATCACTGCTGGGCATTCGAGTGTTTTGGGATGACAAATACGTCAACGATC - Additional Sequence
- None
Fish
Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
---|---|---|---|---|---|
atp1a1a.1tx218/tx218 | Homozygous | ♀+/- ♂+/- | 5 figures from 2 publications | Fig. 3 from Pott et al., 2018 | |
atp1a1a.1tx218 | Unknown | Unknown | Fig. for (tx218) from Phenotype Annotation (1994-2006) |
1 - 2 of 2
Show
Supplemental Information
- Genotyping protocol
- None
- Pott, A., Bock, S., Berger, I.M., Frese, K., Dahme, T., Kessler, M., Rinné, S., Decher, N., Just, S., Rottbauer, W. (2018) Mutation of the Na+/K+-ATPase Atp1a1a.1 causes QT interval prolongation and bradycardia in zebrafish.. Journal of Molecular and Cellular Cardiology. 120:42-52
- Chen, J.N., Haffter, P., Odenthal, J., Vogelsang, E., Brand, M., van Eeden, F.J., Furutani-Seiki, M., Granato, M., Hammerschmidt, M., Heisenberg, C.P., Jiang, Y.J., Kane, D.A., Kelsh, R.N., Mullins, M.C., and Nüsslein-Volhard, C. (1996) Mutations affecting the cardiovascular system and other internal organs in zebrafish. Development (Cambridge, England). 123:293-302
- Haffter, P., Granato, M., Brand, M., Mullins, M.C., Hammerschmidt, M., Kane, D.A., Odenthal, J., van Eeden, F.J., Jiang, Y.J., Heisenberg, C.P., Kelsh, R.N., Furutani-Seiki, M., Vogelsang, E., Beuchle, D., Schach, U., Fabian, C., and Nüsslein-Volhard, C. (1996) The identification of genes with unique and essential functions in the development of the zebrafish, Danio rerio. Development (Cambridge, England). 123:1-36
1 - 3 of 3
Show