Genomic Feature
nz171
- ID
- ZDB-ALT-070819-1
- Name
- nz171
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Crosier Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 16: 48423230 (GRCz11) (1) Details
- Nucleotide change
- C/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>T at position 829 in Exon 8 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Gly>Stop at position 277 (1)
- Flanking Sequence
-
GAATTTTGGTATTGAGATCGGATTGGTTTGAAAAAAAACGGTAATGGTGCATTTCTAGTCCTTGGTGATTTAATGTTAAGTTAAACTAACAGTGCTTCCACCAGACCGGGAGACCATCTGAATGGATTATAAAAAGGTAAAACTCAACTTTTACAACACAAGGAGACTAGTAAAATTAGCCTATTTTCAAAAAAACAAACTGTTGCTTTAAGGTCTATGTCACAATGCTGTTCTTAATCTTAGTTATAATAAAGCTCATTTTATTTGAACTAATAAAAGAAACTGCTATAACAAGAAATGAAAATAACAGGTAGACAAGAGCTCAATGGATTGAAGTTGTAAAATTATGATATTACATTTTTTTAAATTAATTTATTGTTTATTTTTACCAGTGATGTCGATGGGCTCAAGAGCGAAAGCTTCATCCTCATTGGGCACCAGAGTGGTCTGTTCGGTCTGATCTGTCTGGTCAGTGGTGTTGGGAAGAGGCTCCACGGGTC
C/A AGAGTCTGGACTGTCTGGACCTCCAGCTGCTGAAATGATAATGCAGAAACGTCTTATGAGGTCCAAATAGCATGACAAGAGGAACTGTTATTACAGGAAGATGATTTCCTCATTAAACAAGTTACTCATCTTTATACAATTATAAAAAAAAACCTGAAAGACATTTTAATCACTTAACAAGCTGTAAATGGTACAAACCTGTCCCAAAACACATGTGTTACTGTAACAAATAACAAACCTCTAAACCAGGGGTCTCAAACTCGCGGCCCTCAGTGCAATATTTTGTGGCCCGCGCCGACCGCTGTACACTGACAGAATCAGCGGAGCGGGGAGAGAGAGCACTCCCCGCTCCGCTGATTCTATCCATACACAGCGGTCACTGGCATTCCCCGCCCGCCGTGTTGTCGCGCGCGTTCTCATCAGCGGTGTTATCGCGCACCTACTGAAGGGCGGGACCGAGGGTGTGTCGCGTCACGGGGGCACTTTTGATCATTTTGGAA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| rad21anz171/nz171 | Homozygous | ♀+/- ♂+/- | 4 figures  from 3 publications | 7 figures from 4 publications | |
| rad21anz171/nz171 (AB) | Homozygous | ♀+/- ♂+/- | 5 figures from Horsfield et al., 2007 | 9 figures from Horsfield et al., 2007 | |
| rad21anz171/+ | Heterozygous | ♀+/- ♂+/- | Fig. 2 from Rhodes et al., 2010 | ||
| rad21anz171/nz171; ba2Tg | Complex | Fig. 6 from Schuster et al., 2015 | |||
| rad21anz171/nz171; ia5Tg/+ | Complex | Figure 7. from Chin et al., 2020 | |||
| rad21anz171/+ + MO2-rad21a | Complex | Fig. S3 from Schuster et al., 2015 | |||
| rad21anz171/nz171 + MO1-esco2 (AB) | Complex | Fig. S6 from Mönnich et al., 2011 |
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Supplemental Information
- Genotyping protocol
- None
- Gimenez, G., Kalev-Zylinska, M.L., Morison, I., Bohlander, S.K., Horsfield, J.A., Antony, J. (2024) Cohesin rad21 mutation dysregulates erythropoiesis and granulopoiesis output within the whole kidney marrow of adult zebrafish. American journal of physiology. Cell physiology. 328(1):C9-C19
- Labudina, A.A., Meier, M., Gimenez, G., Tatarakis, D., Ketharnathan, S., Mackie, B., Schilling, T.F., Antony, J., Horsfield, J.A. (2024) Cohesin composition and dosage independently affect early development in zebrafish. Development (Cambridge, England). 151(15):
- Chin, C.V., Antony, J., Ketharnathan, S., Labudina, A., Gimenez, G., Parsons, K.M., He, J., George, A.J., Pallota, M.M., Musio, A., Braithwaite, A.W., Guilford, P., Hannan, R.D., Horsfield, J.A. (2020) Cohesin mutations are synthetic lethal with stimulation of WNT signaling. eLIFE. 9:
- Meier, M., Grant, J., Dowdle, A., Thomas, A., Gerton, J., Collas, P., O'Sullivan, J.M., Horsfield, J.A. (2017) Cohesin facilitates zygotic genome activation in zebrafish. Development (Cambridge, England). 145(1)
- Schuster, K., Leeke, B., Meier, M., Wang, Y., Newman, T., Burgess, S., Horsfield, J.A. (2015) A neural crest origin for cohesinopathy heart defects. Human molecular genetics. 24(24):7005-16
- Marsman, J., O'Neill, A.C., Kao, B.R., Rhodes, J.M., Meier, M., Antony, J., Mönnich, M., and Horsfield, J.A. (2014) Cohesin and CTCF differentially regulate spatiotemporal runx1 expression during zebrafish development. Biochimica et biophysica acta. Gene regulatory mechanisms. 1839(1):50-61
- Deardorff, M.A., Wilde, J.J., Albrecht, M., Dickinson, E., Tennstedt, S., Braunholz, D., Mönnich, M., Yan, Y., Xu, W., Gil-Rodríguez, M.C., Clark, D., Hakonarson, H., Halbach, S., Michelis, L.D., Rampuria, A., Rossier, E., Spranger, S., Van Maldergem, L., Lynch, S.A., Gillessen-Kaesbach, G., Lüdecke, H.J., Ramsay, R.G., McKay, M.J., Krantz, I.D., Xu, H., Horsfield, J.A., and Kaiser, F.J. (2012) RAD21 Mutations Cause a Human Cohesinopathy. American journal of human genetics. 90(6):1014-1027
- Mönnich, M., Kuriger, Z., Print, C.G., and Horsfield, J.A. (2011) A zebrafish model of Roberts syndrome reveals that Esco2 depletion interferes with development by disrupting the cell cycle. PLoS One. 6(5):e20051
- Rhodes, J.M., Bentley, F.K., Print, C.G., Dorsett, D., Misulovin, Z., Dickinson, E.J., Crosier, K.E., Crosier, P.S., and Horsfield, J.A. (2010) Positive regulation of c-Myc by cohesin is direct, and evolutionarily conserved. Developmental Biology. 344(2):637-649
- Horsfield, J.A., Anagnostou, S.H., Hu, J.K., Cho, K.H., Geisler, R., Lieschke, G., Crosier, K.E., and Crosier, P.S. (2007) Cohesin-dependent regulation of Runx genes. Development (Cambridge, England). 134(14):2639-2649
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