Genomic Feature
dc124
- ID
- ZDB-ALT-011017-2
- Name
- dc124
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Fisher Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 3: 23231941 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- None
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Gly>Asp at position 736 (1)
- Flanking Sequence
-
CATTTTTACTCAGGGTGACAGAGGATTCCCTGGTGAGCGTGGTGCCCCTGGCCCTGCTGGCCCTGTTGGTGCCCGTGGTTCTCCTGGTTCAGCTGGTAACGATGGTGCCAAGGTAAGTCTCATCTCTTCTGACTATTTTTATCATGCCAGACATTTACAGTGAATGACTAAGATAAATCAAAGGTTGCCACCAAATGTGAACCAATCTCCTGGAAAGTATGGCAACAAATCCTAGTCTGTATCAACATTAAGATAACTTGTTTTTCAGGGTGAAAGTGGTGCCGCAGGTGCTCCTGGTGCCCAGGGTCCTCCTGGACTTCAAGGAATGCCTGGAGAGCGTGGGGCTGCTGGCCTCCCTGGTCTTAAGGGTGACAGAGTGAGTATGACACAAACTGAACTTTGAACAGTTTGTCTTTGACAGAAAATATTGTTCCAACATACAGCGAACAAAGTTGTCAAAATTGTTGATCTCTTATCCCAGGGTGACCAAGGTGCCAAGG
G/A TGCTGATGGTGCTGCTGGTAAAGATGGCATTCGTGGTATGACCGGACCAATTGGACCCCCCGGACCTGCTGGAGCTCCTGGTGACAAGGTGAGTGTCTTTTGAGCTAGATTCTATAAATCCATACTAAGTGATGAAACATCTTGAAGTTGAAGAGTATATTTAACCATGGTTCTAATATTTGTTTGTAAACATAGGGAGAATCTGGTGCTCAAGGACTTGTTGGACCTACTGGTGCCCGTGGACCACCTGTAAGCACAGTCTTGGCTTTAAGACAACAAACATTTAGGTATTTCACTAGAATGGTCTGATATCATAATCTGTTATTACATATAGGGTGAGCGTGGAGAGACTGGTGCTCCTGGACCTGCCGGATTTGCTGGACCTCCTGTGAGTAACAAATTCTACTACATCTATATCCTTTTAATGTTTTTTACAGCCCAGTTCATAGTTCAAACCTAATTTCGTGCCAAACAGGGTGCTGATGGTCTGCCTGGTGCCA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| col1a1adc124/+ | Heterozygous | Unknown | 9 figures  from 3 publications | ||
| col1a1adc124/+ | Heterozygous | ♀+/- ♂+/- | |||
| col1a1adc124/+ (AB) | Heterozygous | Unknown | 6 figures from Fiedler et al., 2018 | ||
| col1a1adc124/+ (AB) | Heterozygous | ♀+/- ♂+/- | 7 figures from Cotti et al., 2022 | ||
| col1a1adc124 | Unknown | Unknown | Fig. for (dc124) from Phenotype Annotation (1994-2006) |
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Supplemental Information
- Genotyping protocol
- None
- 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
- Cotti, S., Huysseune, A., Larionova, D., Koppe, W., Forlino, A., Witten, P.E. (2022) Compression Fractures and Partial Phenotype Rescue With a Low Phosphorus Diet in the Chihuahua Zebrafish Osteogenesis Imperfecta Model. Frontiers in endocrinology. 13:851879
- Bek, J.W., De Clercq, A., Coucke, P.J., Willaert, A. (2021) The ZE-Tunnel: An Affordable, Easy-to-Assemble, and User-Friendly Benchtop Zebrafish Swim Tunnel. Zebrafish. 18(1):29-41
- Fiedler, I.A.K., Schmidt, F.N., Wölfel, E.M., Plumeyer, C., Milovanovic, P., Gioia, R., Tonelli, F., Bale, H.A., Jähn, K., Besio, R., Forlino, A., Busse, B. (2018) Severely impaired bone material quality in Chihuahua zebrafish resembles classical dominant human osteogenesis imperfecta. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 33(8):1489-1499
- Gistelinck, C., Kwon, R.Y., Malfait, F., Symoens, S., Harris, M.P., Henke, K., Hawkins, M.B., Fisher, S., Sips, P., Guillemyn, B., Bek, J.W., Vermassen, P., De Saffel, H., Witten, P.E., Weis, M., De Paepe, A., Eyre, D.R., Willaert, A., Coucke, P.J. (2018) Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies. Proceedings of the National Academy of Sciences of the United States of America. 115(34):E8037-E8046
- Gioia, R., Tonelli, F., Ceppi, I., Biggiogera, M., Leikin, S., Fisher, S., Tenedini, E., Yorgan, T.A., Schinke, T., Tian, K., Schwartz, J.M., Forte, F., Wagener, R., Villani, S., Rossi, A., Forlino, A. (2017) The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta. Human molecular genetics. 26(15):2897-2911
- Durán, I., Marí-Beffa, M., Santamaría, J.A., Becerra, J., and Santos-Ruiz, L. (2011) Actinotrichia collagens and their role in fin formation. Developmental Biology. 354(1):160-172
- Fisher, S., Jagadeeswaran, P., and Halpern, M. (2003) Radiographic analysis of zebrafish skeletal defects. Developmental Biology. 264(1):64-76
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