Genomic Feature
p3
- ID
- ZDB-ALT-200811-4
- Name
- p3
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one delins (1)
- Protocol
- embryos treated with
- Lab of Origin
- Mullins Laboratory
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Delins
- Variant Location
- Chr 13: 22614468 - 22614520 (GRCz11) (1) Details
- Nucleotide change
- CAAAAAAAACAGCTTTGACTGTGTTTTGTCATCAGGTATAAGTGGCAGACAGA/GTCCGTTATCAACTTGAAAAAGTGGCACC
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- None
- Transcript Consequence
- Intron Gain, Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
TGCTGGAAATTAGTTTTAGATGAATAATATTATATGTGTGCTCTGCTGATTGAGCCCTGGCTCAGCTAATGCCTTTATGATGGACATATGTTTTCTCTTGATCTGTTTACAGAACCACCAGACCCTCACTGGCTGGCCTTTCTCATCTCAGTGACTGTGTGCTTCTGTGCTCTCATCTGTGTCACTGTCATCTGTTATTACAGGTGAGATCATCACCGCACTTAAGCAGCAAAACACACTGAAGCTCTTACATGTAATGGCTGCTTGTGACATGCCTGTTTTTCCACATCACTGAACTGTAAGCGAAATGCCCTCTGAAAACACATGCCACCCACATCATGGCCTGTTGTTGTCAAAAGAGACTATTGTGTTACTGCAAGTAGGGGCAAGACTCTGTTCCTTGGCTTGTGAAAATAAATCTTTTAAAGTGCTGTAGCATACAGCAAATATTGTTTTGTTTATAAGAGGAGTCAGGAGTGATCTCTTTAACATCAAAGATA
CAAAAAAAACAGCTTTGACTGTGTTTTGTCATCAGGTATAAGTGGCAGACAGA/GTCCGTTATCAACTTGAAAAAGTGGCACC GAGGCAGCGCTACCACAGAGACCTGGAGCAAGACGAGGCCTTTATCCCAGCAGGAGAATCCCTGAAAGACCTCATCAACCAGTCTCAGACCTCAGGCAGTGGCTCTGGACTCCCTCTGCTGGTGAGAAATCACAAATGCTCACTGAATGACTGTGCCTGACGATGTCTTGTGTTTTAACTGTGCCTCTGTTCACATCTTACAGGTGCAGCGCACTATAGCAAAGCAGATCCAGACAGTGCGAATGATCGGAAAAGGACGATATGGAGAAGTGTGGCTTGGTCGGTGGAGAGGAGAGAAGGTAGCAGTGAAGGTGTTCTTTACCCGAGAGGAGGCCAGCTGGTTCAGAGAGACAGAGATCTATCAAACCGTGCTCATGAGACATGAGAACATACTCGGTAAAATGTCATTCATGATGTTTGTCATTGAGTTTCAATTCTAGGGCCAGGCAAAAATATAGATTATACTTCTTAATATATATATTTTTATAAATGTGCTTGAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| bmpr1absa28/sa28; bmpr1aap3/p3 | Complex | Fig. 5  from Allen et al., 2020 | Fig. 6 from Allen et al., 2020 | ||
| bmpr1absa28/sa28; bmpr1aap3/+ | Complex | Fig. 5 from Allen et al., 2020 | Fig. 6 from Allen et al., 2020 | ||
| bmpr1absa28/sa28; bmpr1aap3/p3 + MO1-bmpr1ba + MO1-bmpr1bb + MO2-acvr1l + MO4-acvr1l | Complex | Fig. 5 from Allen et al., 2020 | Fig. 6 from Allen et al., 2020 |
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Supplemental Information
- Genotyping protocol
- None
- Allen, R.S., Jones, W.D., Hale, M., Warder, B.N., Shore, E.M., Mullins, M.C. (2023) Reduced GS domain serine/threonine requirements of Fibrodysplasia Ossificans Progressiva mutant type I BMP receptor ACVR1 in the zebrafish. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 38(9):1364-1385
- Wentworth, K.L., Lalonde, R.L., Groppe, J.C., Brewer, N., Moody, T., Hansberry, S., Taylor, K., Shore, E.M., Kaplan, F.S., Pignolo, R.J., Yelick, P.C., Hsiao, E.C. (2022) Functional testing of BMP pathway variants identified on whole exome sequencing in a patient with delayed-onset fibrodysplasia ossificans progressiva (FOP) using ACVR1R206H -specific human cellular and zebrafish models. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 37(11):2058-2076
- Yamaguchi, N., Zhang, Z., Schneider, T., Wang, B., Panozzo, D., Knaut, H. (2022) Rear traction forces drive adherent tissue migration in vivo. Nature cell biology. 24:194-204
- Tajer, B., Dutko, J.A., Little, S.C., Mullins, M.C. (2021) BMP heterodimers signal via distinct type I receptor class functions. Proceedings of the National Academy of Sciences of the United States of America. 118(15):
- Allen, R.S., Tajer, B., Shore, E.M., Mullins, M.C. (2020) Fibrodysplasia ossificans progressiva mutant ACVR1 signals by multiple modalities in the developing zebrafish. eLIFE. 9:
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