Genomic Feature
upv2
- ID
- ZDB-ALT-210401-9
- Name
- upv2
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one delins (1)
- Protocol
- embryos treated with
- Lab of Origin
- Forlino Lab
- Current Source
- Other Pages
-
Notes
No data available
Variants
- Variant Type
- Delins
- Variant Location
- Chr 11: 39100177 (GRCz11) (1) Details
- Nucleotide change
- C/GGAGAA
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 6 bp inserted / 1 bp deleted (1)
- Transcript Consequence
- None
- Protein Consequence
- None
- Flanking Sequence
-
TTTCCTCGAGCGAGAATGATACGACTGAAACTTTGTCATGCACCACGCCCACCAAAAGGGTACCCTTGGTAGTGGAAATGCAAGCCTGATAAAGGTGACCCATATCGACCCAAACCGTACCGTACTGTACCAGTCAGTGGAAACGAGCCAATAGATTAGTTGTTTATTGCAATCGGTTTCCTCAAACGGTTTGAGTTGCCATAACTCATTGGGTTTTACAGTACTCAGTTGGTTTGAGTTCTCTTCCTTTATGGGTTTTACTAGGCTCAAATTGCTTCATTTACTCAAATAGATTAAGTAAGCACTTGTTTTTGAACCTAAATTGTGTTGCAATCGGTTTCCTCAAATGATTTGAGCTACCTTAACTTTTGGGGTTTTACAGTGTGTATATTCTGCATCCCTAATTATAAGCATATATTGTAAGGCAGTGATTGCATGGAATATAAATCTAAGTCTAGGTTAATAATCATTCATCACACCATGTGCGGTTTCTCCTCCAG
C/GGAGAA TCCTTGAAATCGGTCTCCTGCACCCCAGCCATCATCCTGTAATAATCTAAATTCTGTTTCATCTCCACATGCTCGGGGTTCGCCATGAAAAATGTATTTGCTGCTGCCACTGCCTTGTCAAGCTTGTTTATCTGTAAGTACAAGGAAAGAAATGTTCAGATATTCTCATGGTTTGCAAGTCAGAGCTCTATAAAAATAGTTCAGAATAAAAATAGACGTTAAAATATTTCTAGAATGTATCTTACTGACACATTTCAAATCATATAATGTGATATACAGTATGTGTATATGCTGTGTGCATACATGTACATGTTAGTGTAGTGTATCTTAAGTAGACCCACTCGGAATCTGTGCACGTACAGAATTCTGTAGATTTTTAGCCCATCATTAATTCTGTTTATTTACTTGAGTAAATGTGTGTAAATTTATATTTATTCAGTTTTTTATTAATTTCAGTAATATTATTGACTAATGTGAAAATGTTCATCTGATTTATGTAC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| p3h1upv2/upv2 | Homozygous | ♀+/- ♂+/- | 4 figures from Tonelli et al., 2020 | ||
| p3h1upv2/+ | Heterozygous | ♀+/- ♂+/- | Fig. 3 from Tonelli et al., 2020 |
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Supplemental Information
- Genotyping protocol
- None
- Besio, R., Garibaldi, N., Sala, A., Tonelli, F., Aresi, C., Maffioli, E., Casali, C., Torriani, C., Biggiogera, M., Villani, S., Rossi, A., Tedeschi, G., Forlino, A. (2025) The administration of exogenous HSP47 as a collagen specific therapeutic approach. JCI insight. :
- Daponte, V., Tonelli, F., Masiero, C., Syx, D., Exbrayat-Héritier, C., Biggiogera, M., Willaert, A., Rossi, A., Coucke, P.J., Ruggiero, F., Forlino, A. (2023) Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure. Matrix biology : journal of the International Society for Matrix Biology. 121:105-126
- Tonelli, F., Cotti, S., Leoni, L., Besio, R., Gioia, R., Marchese, L., Giorgetti, S., Villani, S., Gistelinck, C., Wagener, R., Kobbe, B., Larionova, D., Fiedler, I.A.K., Busse, B., Eyre, D., Rossi, A., Witten, P.E., Forlino, A. (2020) Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype. Matrix biology : journal of the International Society for Matrix Biology. 90:40-60
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