Genomic Feature
bns247
- ID
- ZDB-ALT-190822-8
- Name
- bns247
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Stainier Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 12: 46815197 - 46815212 (GRCz11) (1) Details
- Nucleotide change
- GGAGCAGGCCGGCCGC/-
- Variant Notes
-
The mutant protein is truncated and lacks its actin-binding domain.
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 16 bp deleted (1)
- Transcript Consequence
- None
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
AATGCCCCAAAACATGCTGAAGCGCTGGGAAGCTGAACACCTCCACACTGCTTTCCTGCATGGAAACTGTGTAATGTGGTGATTATGTTCTGTTCCTGCTGTTCATTGTTTGACTGTCGACTGTTTGCTGGTGGTTTAGCAACTCTTGCTCTGATGTCGGGAGATGTGAGTCAGATGTGTGGGTTTTCCTGACATCTATTCTACAGAAGTTCTACACATTCGCCAGGGTTAAATACATGTCATTTTTATAATTCAGTTTTTTCCTTCTGCTTAAGTGTGTCTATAATGCCACACATGGACCAGGAGTGTTTTTGTTCATGAATGATCTCTTATTTCCTCTCATGTGTGTGTGTTGTGTTCAGAGGTAAAGGTGATACTCCAGAGGCTCGAGCTCTGGCTAAGCAGATCGCCACGGCTCTGCAGAACCTGCAGTCTAAAACCAGTAAAGCGGTGGCAAACACTCGACCGGCCAAAGCAGCCGTTCATCTGGCCGGAAAGAT
GGAGCAGGCCGGCCGC/- TGGATTGACAACCCCACGCTGGACGACAGTGGCGTCGGTGAGAGAGATGCACACATCACACTCTCTTCTACACCCGCTGATAACATCAGCTTTCACTGATTAGATAACAAGAGGATGACAAATTGGAGCGGTTTATTGCCTCCAGATGTTGTGGGAACACATCACACACTGAACTGCAGTTGTGGTGGAGTTGCTCATCTGCTGACTGGGATTTGGTTTTGTTTGGTGATCTTTGAAGGGGCAAATAAATGTTAAAAGCTATAATAAATATATTATTTATATATTAATGTATGAATTGGACAGCAGTGGTTTGTTTCTGTAGCCTAAAATCTTTAGGGGTTAATGATATTGACAAATAAATTTTTATTTTATTTCAGCCAAGCTAAATTGTTAATTAATTTATTTAAAAAAAAACTGTTTTTAATGTACATTATTGTAACTTTGATTTATTTATTAATTTTAATTATTATTTGAAATCATCAGTTTTATTGATTTAGGAA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| vclbbns247/bns247 | Homozygous | Unknown | Fig. S5 from Gunawan et al., 2019 | ||
| apbb1ipbns275/bns275; vclbbns247/bns247 | Complex | Fig. S5 from Gunawan et al., 2019 | |||
| apbb1ipbns275/+; vclbbns247/+ | Complex | Fig. S5 from Gunawan et al., 2019 |
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Supplemental Information
- Genotyping protocol
- None
- Fukuda, R., Gunawan, F., Ramadass, R., Beisaw, A., Konzer, A., Mullapudi, S.T., Gentile, A., Maischein, H.M., Graumann, J., Stainier, D.Y.R. (2019) Mechanical Forces Regulate Cardiomyocyte Myofilament Maturation via the VCL-SSH1-CFL Axis. Developmental Cell. 51(1):62-77.e5
- Gunawan, F., Gentile, A., Fukuda, R., Tsedeke, A.T., Jiménez-Amilburu, V., Ramadass, R., Iida, A., Sehara-Fujisawa, A., Stainier, D.Y.R. (2019) Focal adhesions are essential to drive zebrafish heart valve morphogenesis. The Journal of cell biology. 218(3):1039-1054
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