Genomic Feature
s213
- ID
- ZDB-ALT-050919-22
- Name
- s213
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- ENU
- Lab of Origin
- Stainier Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 3: 31741915 (GRCz11) (1) Details
- Nucleotide change
- A/C
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>G (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Ile>Arg at position 462 (1)
- Flanking Sequence
-
CCAATGGCGTACCAGATGCATGCCAGCCAGTGGGCGATGAGAGCAAAGGTGCACATGAGGAGGAAGAGCACCGCCGCTCCATACTCAGAGTAACGGTCCAGTTTTCTCGCTACTCGCACCAGTCGCAGCAGCCGTGCAGTCTTCAGCAGACCAATCAGAGTGGTGGTTTGAGGCTGCAAGGACGAGTTTGAGAGGATTAGTTTGTTTGTACACTCTTATTTTTATTCAGTTGGCATCACTGAAAGAGAAAGGCATGCACTGTATGGCTGTCAACAATCAACATTATCACACTGAGATCGATATTCCAGATCATTCATTGATTGTTCTGAGCGCTTCATCTAAAATTAGAATGTTTACCAATTTGTACGTTTCGTTCTGTTCTGGCTGTTCCTTCAGAGAAAAACGATTGATTAACATTTATTCAGTCTAAGGAAAGCCTCACCTCATCTGAACCGGATCTGAAAATGAGCAGGTCGAAGGGGATGGCAGCAACTATGTCT
A/C TGAGGAACCAGCCCTTGAAGTAGTGCTGAGCGATGCGGGCAGGGTTGCTGACCACCTCGTCGTTGTGATTGACGTATGTGGTCCTGAAGTTGATGAGGATGTCGATGATGAACATGACGTCCACCACCAGGTCCACCACGTTCAGAGGGTTGCAGGTGTAGCCACAGGTGCGTCTTCTCTCATCCTCCTGCTCGTTGAGGAGGAACGCGGCTGAATATGGCGTGAAGACGGCCGTGTAGAGCACCAGCAGCAGGATGATCCAGTCCCACACCGCCTTGAACGGGCTGTAGTGCAGGATTGTCCATTTGTGGATGCGGGGAGCTTGAAGCTTGTACTCCGGAAGCACATCTGCCCCGAGTGACAGGACCTAAGGGTAGAGGAAGAGAAACCACAAATCAGAAGATCTCAAGGGGTGGTTTTAATTGAGATCCAGTGGATAGAAGTGGTAAAGGTTAACAGAGATTTTAAGATTTCATTGCTACACCATCTGGTTAAACATT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| kcnh6as213/s213 | Homozygous | ♀+/- ♂+/- | 3 figures  from 2 publications | ||
| kcnh6as213/+ | Heterozygous | ♀+/- ♂+/- | |||
| kcnh6as213 | Unknown | Unknown | Fig. for (s213) from Phenotype Annotation (1994-2006) | ||
| kcnh6as213/s213; s878Tg | Complex | 2 figures from 2 publications | Fig. 7 from Chi et al., 2008 |
1 - 4 of 4
Show
Supplemental Information
- Genotyping protocol
- None
- Chi, N.C., Shaw, R.M., Jungblut, B., Huisken, J., Ferrer, T., Arnaout, R., Scott, I., Beis, D., Xiao, T., Baier, H., Jan, L.Y., Tristani-Firouzi, M., and Stainier, D.Y. (2008) Genetic and Physiologic Dissection of the Vertebrate Cardiac Conduction System. PLoS Biology. 6(5):e109
- Arnaout, R., Ferrer, T., Huisken, J., Spitzer, K., Stainier, D.Y., Tristani-Firouzi, M., and Chi, N.C. (2007) Zebrafish model for human long QT syndrome. Proceedings of the National Academy of Sciences of the United States of America. 104(27):11316-11321
- Beis, D., Bartman, T., Jin, S.W., Scott, I.C., D'Amico, L.A., Ober, E.A., Verkade, H., Frantsve, J., Field, H.A., Wehman, A., Baier, H., Tallafuss, A., Bally-Cuif, L., Chen, J.N., Stainier, D.Y., and Jungblut, B. (2005) Genetic and cellular analyses of zebrafish atrioventricular cushion and valve development. Development (Cambridge, England). 132(18):4193-4204
1 - 3 of 3
Show