Genomic Feature
b557
- ID
- ZDB-ALT-030327-2
- Name
- b557
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- Lab of Origin
- Kimmel Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 3: 53001025 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T at position 136 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Gln>Stop at position 46 (1)
- Flanking Sequence
-
TGTTTCGAGTGGCGATAGTTTGAGATGCCGCGCATGGGATACTTCATGTTTCCAGGGACGCTCTTATTTTCTTGTTAGTCTGCTTTATGGGAGTGCTAGTGTGCAGCCTTTTGCTGTAGACAACACTGGTTTTTAGCAGGAACCGCACGCGGTGTTTCACCATCGGTCGCGCGTCGTTTGGATGTGGTTCAGCCTCACATTTCAGTCGCACTCTCGTTGTTTGTTTTCTTTTTTTATCTAGTGGCTCGTTCAGCTCCGCGTTTGTATCCGCGCTGTCGGTGGTACATGCTCACTGAGACAGCCCGCTGAAACACGCTTTCATTGGTTTGCGGCGGGGAAACGGAGAGATTCGGCTCAAAAGTATTATGGATGATCAGACCCGAATGCTGGCTAGCATGGGCGGACTCGGCGGACTCTCGCAAGCCGACGTGGGTGACCCCGATTCGGTTCGGAAGCAGCAGTCGCTCGGTCAACCGCAGCAAGACATAGGAGATATCCTC
C/T AGCAGATCATGGCCATCACCGACGAGAGCCTCGACGAAGCCCAGGCGAGGTAAGAAGTGTGGCCGCACTCAGGAAAAAGCACTCTTTATTTGATGGATTGAGAGGTACTTCATTGAGCTCTCTGAGGGGAATTGATGTGCAACAGCAAATAGACACAATCTGCACACCTCGTTGCGTTATATATAAATAGCTGCGTTTGTGCGGCCGCGTGAAAACCCACTGTGATGAAATAAGCATAAGGTGTAATGCGTTTACTCCTTCAGATATGCACAGTGCAAAATACACTGTTTATTCACCACGTTTGTTTAGGTGCTTTTGGCTCCCTCTTTTTAAGTTGTAAAAAGTTGGCCTTAAGCTGATTGAGGTTACCATATTAATTTGAGGTTTTAATGAAGAAAAGCATCTGCCTAATGAATCTAAATGCACTTGGTAAATGATCTTTTGAGGATTACATAATGCAATCATGTTTTAACCCTCAGGTGCTCCTTTCGTGGCCGCCA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| pbx4b557/b557 | Homozygous | ♀+/- ♂+/- | 15 figures  from 5 publications | 17 figures from 5 publications | |
| pbx4b557/b557 | Homozygous | ♀-/- ♂+/- | |||
| pbx4b557/b557 | Homozygous | Unknown | 4 figures from 3 publications | 4 figures from 3 publications | |
| pbx4b557/b557 (AB) | Homozygous | ♀+/- ♂+/- | 5 figures from 2 publications | 5 figures from 2 publications | |
| pbx4b557/b557; fb9Tg | Complex | Fig. 7 from Holowiecki et al., 2020 | |||
| pbx4b557/b557; s958Tg; sd12Tg | Complex | Fig. 4 from Kao et al., 2015 | Fig. 4 from Kao et al., 2015 | ||
| pbx4b557/b557; sd12Tg | Complex | Fig. 4 from Kao et al., 2015 | |||
| pbx4b557/b557; twu34Tg | Complex | Fig. 5 from Kao et al., 2015 | |||
| pbx4b557/b557; Df(Chr01:hand2)s6/s6 (AB) | Complex | Fig. 3 from Farr et al., 2018 | Fig. 3 from Farr et al., 2018 | ||
| pbx4b557/+; Df(Chr01:hand2)s6/s6 (AB) | Complex | Fig. 3 from Farr et al., 2018 | Fig. 3 from Farr et al., 2018 |
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Supplemental Information
- Genotyping protocol
- None
- Holowiecki, A., Linstrum, K., Ravisankar, P., Chetal, K., Salomonis, N., Waxman, J.S. (2020) Pbx4 limits heart size and fosters arch artery formation through partitioning second heart field progenitors and restricting proliferation. Development (Cambridge, England). 147(5):
- Farr, G.H., Imani, K., Pouv, D., Maves, L. (2018) Functional testing of a human PBX3 variant in zebrafish reveals a potential modifier role in congenital heart defects.. Disease models & mechanisms. 11(10):
- Selland, L.G., Koch, S., Laraque, M., Waskiewicz, A.J. (2018) Coordinate regulation of retinoic acid synthesis by pbx genes and fibroblast growth factor signaling by hoxb1b is required for hindbrain patterning and development. Mechanisms of Development. 150:28-41
- Kao, R.M., Rurik, J.G., Farr, G.H., Dong, X.R., Majesky, M.W., Maves, L. (2015) Pbx4 is Required for the Temporal Onset of Zebrafish Myocardial Differentiation. Journal of developmental biology. 3:93-111
- Cheung, C.Y., Webb, S.E., Love, D.R., and Miller, A.L. (2011) Visualization, characterization and modulation of calcium signaling during the development of slow muscle cells in intact zebrafish embryos. The International journal of developmental biology. 55(2):153-74
- Erickson, T., Pillay, L.M., and Waskiewicz, A.J. (2011) Zebrafish Tshz3b negatively regulates Hox function in the developing hindbrain. Genesis (New York, N.Y. : 2000). 49(9):725-42
- Lukowski, C.M., Drummond, D.L., and Waskiewicz, A.J. (2011) Pbx-dependent regulation of lbx gene expression in developing zebrafish embryos. Genome. 54(12):973-85
- Pillay, L.M., Forrester, A.M., Erickson, T., Berman, J.N., and Waskiewicz, A.J. (2010) The Hox cofactors Meis1 and Pbx act upstream of gata1 to regulate primitive hematopoiesis. Developmental Biology. 340(2):306-317
- Choe, S.K., Lu, P., Nakamura, M., Lee, J., and Sagerström, C.G. (2009) Meis cofactors control HDAC and CBP accessibility at Hox-regulated promoters during zebrafish embryogenesis. Developmental Cell. 17(4):561-567
- diIorio, P., Alexa, K., Choe, S.K., Etheridge, L., and Sagerström, C.G. (2007) TALE-Family homeodomain proteins regulate endodermal sonic hedgehog expression and pattern the anterior endoderm. Developmental Biology. 304(1):221-231
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