Genomic Feature
hu5920
- ID
- ZDB-ALT-140805-2
- Name
- hu5920
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- den Hertog Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 23: 23970912 (GRCz11) (1) Details
- Nucleotide change
- A/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- in Exon 3 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Lys>Stop (1)
- Flanking Sequence
-
GATGGCTCTCAGTCTGTTTTCAAATGATTTCTGATGTGCTACGGCTGAAATATGAATGACAATAGCATCAAAACTAACCAAAACAGGATATGATGTCACAAGATGTGACCATAAAAATGACAGAATTAAAAAAATAATAATTGAAAAGTAAACATGATGTTTGCCTATATTGGATATGCTTTATGTTGTTGCTCAAATATTCAAATGTAATTTTTATGTTTGCTATCAATGTATAAAATCATTAACTAGACAGTTATTTCACTTTATTTATTTATAATTCTTAGCTTCACCTCATATACAGTATTTACCTTATTATTATGTAACTCAGCATTTTCCCTGTTTAATATGTCAGTTTTCAACAACATCCTCCTAACTGTTGTCTGTCTTTTCCATCTTTTCCATTCTGTCTGTCATCCCTCATTTCCAAACCCCCTGCTCTTTCCCCGTTGCGACTCCATCTGTTTGTTCTGGGCAGGAGGAATGATGAGGTCACCCACATT
A/T AAATCCAGAACTCGGGGGACTATTATGACCTGTACGGAGGGGAGAAGTTCGCCACGCTGGCTGAGCTGGTCCAGTATTACACCGAGCAGCACGACCTCCTGAGGGAACGCAATGGAGATGTTATTGAGCTCAAATACCCACTCAACTGCAAAGACCCCACATCTGAGAGGTACAGTCTTTCCAAATCTCTACCTAGACTTAATATTGAGTGGACAGAATAAATCCTGCCCCCTAGTGTTCAAACATCAGTGCAAAGGAAGAGCTGTGGTTTGTTTGGCAGAACTTGTTTGTGCTTATGTTAGGGGGGTGGGGGGCTAACAGTTTGTGTTTCTTCTTTCTGTTTTGACATTTATGTTTTTGAGGTCCAGAATCGTTTTTTGGGTCCAGTATACTTTATAACTTCCTTCACCTATGTAAATAATTACGTTTGATGTTTCTGTGGTGTGTATGGTGCAACATCCTGTAGGCTGTGAAATCTAAGTGTTTATAAATGGGTCAAA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| ptpn11bhu5920/hu5920 (TL) | Homozygous | ♀+/- ♂+/- | Fig. 7  from Bonetti et al., 2014 | ||
| ptpn11bhu5920/hu5920 (TL) | Homozygous | ♀-/- ♂-/- | Fig. 3 from Hale et al., 2017 | ||
| ptpn11ahu3459/hu3459; ptpn11bhu5920/hu5920 | Complex | 3 figures from Bonetti et al., 2014 | |||
| ptpn11ahu3459/hu3459; ptpn11bhu5920/hu5920 (TL) | Complex | 3 figures from Hale et al., 2017 | Fig. 3 from Hale et al., 2017 | ||
| ptpn11ahu3459/+; ptpn11bhu5920/hu5920 (TL) | Complex | Fig. 3 from Hale et al., 2017 |
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Supplemental Information
- Genotyping protocol
- None
- Solman, M., Blokzijl-Franke, S., Piques, F., Yan, C., Yang, Q., Strullu, M., Kamel, S.M., Ak, P., Bakkers, J., Langenau, D.M., Cave, H., den Hertog, J. (2022) Inflammatory response in hematopoietic stem and progenitor cells triggered by activating SHP2 mutations evokes blood defects. eLIFE. 11:
- Hale, A.J., den Hertog, J. (2017) Shp2-MAPK signalling drives proliferation during zebrafish embryo caudal fin-fold regeneration. Molecular and cellular biology. 38(4):e00515-17
- Wu, W., Hale, A.J., Lemeer, S., den Hertog, J. (2017) Differential oxidation of protein-tyrosine phosphatases during zebrafish caudal fin regeneration. Scientific Reports. 7:8460
- Bonetti, M., Rodriguez-Martinez, V., Paardekooper Overman, J., Overvoorde, J., van Eekelen, M., Jopling, C., Hertog, J.d. (2014) Distinct and Overlapping Functions of ptpn11 Genes in Zebrafish Development. PLoS One. 9:e94884
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