Genomic Feature
fh229
- ID
- ZDB-ALT-061129-16
- Name
- fh229
- Synonyms
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation
- Protocol
- adult males treated with ENU
- Lab of Origin
- Moens Lab
- Current Source
- Zebrafish International Resource Center (ZIRC) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 5: 43799596 (GRCz11) (1) Details
- Nucleotide change
- A/T
- Variant Notes
-
This is a T-to-A mutation resulting in a stop codon at amino acid 262.
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- at position 262 (1)
- Flanking Sequence
-
CCCATACTGAATGTAACCCCAAACCATAACTTTTTCCTTTACCAAACTTGACTGATTTCTGTGAGAATCTTGGATCCATGCAGGTTCCTTTAGGTCTTCTGCAGTATTTGTGATGTTTGGGATTCAGTTCAACAAATAATTCATCTGAAGAATTAACCCTCTGGCACTTTTCCAAATGATCAACTAGAAGTCAAATAATTATTTGTTGCTCTTACAACAGGGATCGATGAGAAGACTTTTGTCAGGAAGTGAACACATCTACTCAACCCAAACCCTCCCTATATCTAGAAATTCAAATTTAACAGTGATCCATGTGAAATTATGAGACTGAAAAAAAACAAACCGTTGGGTTTTTATTTCCGATGCGATTTCTTGGATGCAGCAGCCTCTTTACGGCCCTGTCTTAAACCCTGTTTAAAAAATAAATAATTAAGTAAAAAGTGAAAACAGCAGGTAGACAAAGAGATGCTTGTAAATTACAAGAAAAACAACTGTACCAT
A/T TAGTATCCAGTGTGATAGCCGCTCATATACCAGGAAATCAGCATACTGCCCAAAGCCTCGTCGTCCTCCCCAAAGTCTGGACTCATAGGTGGCGGTGGTGGGATCATCTGCACCAGTTTATCACCATTACAAATAATAAACTCATCTCACTGTCTGTAAAGCTTTGACCGCACTCTAAAATGTTGGGTGGGTGATGTAACCCAATATGGAGTAAAATAATGGACAAACGTTATATAATAACATTTAAATGACACTTTATAACCCAATGACTGTGTTTGTTCATATTTGGCCCACAAGAGTGAAGGTCCGGCCATCCATCCTGTATAATGGATTTTGTCAAACCCTTCTGTACTGTTCAAATTTACAACCCTTTTGTTGTGTTTATGGCTGTTTTTGCCATATTGACTTTCTTTATAACAACATTTTTTGATTGCAAAGCCATATAATCATGCATTCTTTATTGTTGGTTCCTCCCTGTTGGGAGGAGGCAAAATGTGTAA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| smn1fh229/fh229 | Homozygous | ♀-/- | 7 figures from 2 publications | ||
| smn1fh229/fh229 | Homozygous | ♀+/- ♂+/- | 9 figures  from 3 publications | 4 figures from Boon et al., 2009 | |
| smn1fh229/fh229 | Homozygous | Unknown | |||
| smn1fh229/fh229 (AB/TL) | Homozygous | ♀+/- ♂+/- | Fig. 9 from Hao et al., 2012 | Fig. 1 from Hao et al., 2012 | |
| smn1fh229/fh229 (AB/TL) | Homozygous | Unknown | 3 figures from Hao et al., 2017 | Fig. 10 from Hao et al., 2017 | |
| smn1fh229/+ | Heterozygous | ♀+/- ♂+/- | Fig. 2 from Boon et al., 2009 | ||
| smn1fh229/+ (AB) | Heterozygous | Unknown | |||
| smn1fh229/fh229; os22Tg | Complex | 2 figures from Boon et al., 2009 | Fig. 7 from Boon et al., 2009 | ||
| smn1fh229/fh229; os26Tg | Complex | 2 figures from Hao et al., 2015 | Fig. 4 from Hao et al., 2015 | ||
| smn1fh229/fh229; os26Tg; os44Tg | Complex | Fig. 4 from Hao et al., 2015 | Fig. 4 from Hao et al., 2015 |
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Supplemental Information
- Genotyping protocol
- fh229.pdf
- Riboldi, G.M., Faravelli, I., Kuwajima, T., Delestrée, N., Dermentzaki, G., De Planell-Saguer, M., Rinchetti, P., Hao, L.T., Beattie, C.C., Corti, S., Przedborski, S., Mentis, G.Z., Lotti, F. (2021) Sumoylation regulates the assembly and activity of the SMN complex. Nature communications. 12:5040
- Pei, W., Xu, L., Chen, Z., Slevin, C.C., Pettie, K.P., Wincovitch, S., NISC Comparative Sequencing Program, Burgess, S.M. (2020) A subset of SMN complex members have a specific role in tissue regeneration via ERBB pathway-mediated proliferation. NPJ Regenerative medicine. 5:6
- Pei, W., Xu, L., Huang, S.C., Pettie, K., Idol, J., Rissone, A., Jimenez, E., Sinclair, J.W., Slevin, C., Varshney, G.K., Jones, M., Carrington, B., Bishop, K., Huang, H., Sood, R., Lin, S., Burgess, S.M. (2018) Guided genetic screen to identify genes essential in the regeneration of hair cells and other tissues. NPJ Regenerative medicine. 3:11
- Hao, L.T., Duy, P.Q., An, M., Talbot, J., Iyer, C.C., Wolman, M., Beattie, C.E. (2017) HuD and the Survival Motor Neuron protein interact in motoneurons and are essential for motoneuron development, function and mRNA regulation. The Journal of neuroscience : the official journal of the Society for Neuroscience. 37(48):11559-11571
- Hao, L.T., Phan, D.Q., Jontes, J.D., Beattie, C.E. (2015) Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy. Human molecular genetics. 24(2):346-60
- Li, H., Custer, S.K., Gilson, T., Hao, L.T., Beattie, C.E., Androphy, E.J. (2015) α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth. Human molecular genetics. 24(25):7295-307
- Gassman, A., Hao le, T., Bhoite, L., Bradford, C.L., Chien, C.B., Beattie, C.E, and Manfredi, J.P. (2013) Small molecule suppressors of Drosophila Kinesin deficiency rescue motor axon development in a zebrafish model of spinal muscular atrophy. PLoS One. 8(9):e74325
- Hao, L.T., Duy, P.Q., Jontes, J.D., Wolman, M., Granato, M., and Beattie, C.E. (2013) Temporal requirement for SMN in motoneuron development. Human molecular genetics. 22(13):2612-25
- Hao, L.T., Wolman, M., Granato, M., and Beattie, C.E. (2012) Survival motor neuron affects plastin 3 protein levels leading to motor defects. The Journal of neuroscience : the official journal of the Society for Neuroscience. 32(15):5074-5084
- Boon, K.L., Xiao, S., McWhorter, M.L., Donn, T., Wolf-Saxon, E., Bohnsack, M.T., Moens, C.B., and Beattie, C.E. (2009) Zebrafish survival motor neuron Mutants Exhibit Presynaptic Neuromuscular Junction Defects. Human molecular genetics. 18(19):3615-3625
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