Genomic Feature
hu10478
- ID
- ZDB-ALT-160428-1
- Name
- hu10478
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Bakkers Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 21: 22556731 - 22556737 (GRCz11) (1) Details
- Nucleotide change
- GCACCTC/-
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 7 bp deleted in Exon 2 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- at position 60 (1)
- Flanking Sequence
-
ATTTAAGGAAGACAGAGGAGTGGCCAAGCATTTTGACAAGCGGGAACCTCTAGAACCAATCCTGGGTCCAATCACTAATGATATAATCTCCTACCTGAAAAGTTGATCGAGTTTATCAGCAACAACTCTCTGTCTCTCACTCTCTCTTCTCTCTCGAAGAGTCTTGGCTCTTTCATGCATCTTAGCCTGCCTCTCCAACACTGTCTCTTTTTTTGCCTCCATCTCCTTGAAGAGTTCCAGTTCCTCTGACTCCAGCAGTTCACGAAGCCTGGCAAAAAAAAAAAAAAAAGACAAAGTCATTGCATTACAATGAAAGTTTTCTTAATAATTCATGAAGTTATTCCGTTCAGACCTTTCCCTCTTTTCATCAATGCCCATCTGGTACTGATCTAGTGCATCTTGTAGATGTCTGTTAACAGTGGCAGACACCACACGGCGCTGTGTGTTTCTTTCCCATCGCATTCTCACATCACATGAGCTTTGATCTTTGGTGAACTCCA
GCACCTC/- GCCTCGCGTCGCCTCCTGCTTCCTTCTCCTTACAAATATGTCATCTATGTCTCTGGATAAAGGAGGTCTTGCTTTCTGAAATGTACAAATTTGGAGTGAATTCATAAAAGCTCCATTCATAAAAATGTCTTTTCTATCTTTCTACCTTCTCTCTTTTACTGAAGACAAACTTATGTTAATGTCTATCTAATGTTGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATTTCTCTTTGGGCACATAAAATTTATGTATAATGAAAATGTTTTACTATAGTTACTATAGCATAATATTATAAAATAGTAGGCCTATCATTGTATACATTAATGTATAGTATATGCCTGTCTGTTATGATATAGTAGGCCTGATTGTATGGTTATGTATTACTATATGACTATTAGAATTATTATTGTATAATTATTATAACGT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| cfap53hu10478/hu10478 | Homozygous | ♀+/- ♂+/- | 3 figures from Noël et al., 2016 | Fig. 2 from Noël et al., 2016 |
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Supplemental Information
- Genotyping protocol
- None
- Willekers, S., Tessadori, F., van der Vaart, B., Henning, H.H., Stucchi, R., Altelaar, M., Roelen, B.A.J., Akhmanova, A., Bakkers, J. (2022) The centriolar satellite protein Cfap53 facilitates formation of the zygotic microtubule organizing center in the zebrafish embryo. Development (Cambridge, England). 149(16)
- Noël, E.S., Momenah, T.S., Al-Dagriri, K., Al-Suwaid, A., Al-Shahrani, S., Jiang, H., Willekers, S., Oostveen, Y.Y., Chocron, S., Postma, A.V., Bhuiyan, Z.A., Bakkers, J. (2016) A zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals its Specific Role in Laterality Organ Function. Human Mutation. 37(2):194-200
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