Genomic Feature
mu130
- ID
- ZDB-ALT-170530-1
- Name
- mu130
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Siekmann Lab
- Current Source
- Other Pages
Notes
| Comment | Citation |
|---|---|
| Despite persistent cardiac and vascular abnormalities, homozygous eng mu130 ... | Snodgrass et al., 2023 |
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 5: 71686107 - 71686120 (GRCz11) (1) Details
- Nucleotide change
- GCTGTGGATCTCCG/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 14 bp deleted (1)
- Transcript Consequence
- None
- Protein Consequence
- None
- Flanking Sequence
-
AAGATCAATTACTATAGTGGTTGTGTTACCATAGTACTGTAGAATCACCACAAAACATCGATTACTATAGTTGTTGTTACCATAGCAACTGTAGAATCACCACAAAGCACCGATAACTACAGTTGTTACCATAGCAACTACAGAATCACCACATCACACCAATGAGTTTAGTTGTTGATACCATAACAGTTACTGTAGAATCACCACAACACACCGATTAGTTTAGTAGTTGTTACCACAGCAACTGTAGAATCAAAAAATATCGATTACAGTAGTGGTTGTGCTACCATAGCAACTGTAGAATCACCACAAAACACTGATTACTATAGTCGTTGTTACCATAGCAACTGTAAAATTACCACAACAGATTAATCCAAGTATAGCATGTTTTAACAACACGGCAGTATTTACAGTAAATCACCATAGTATTTCTTCATAATGACACTCTTTTTGGAGATTATTAATAGTTCAACAGCGCATTAATGGAGCTCTTACCTGAA
GCTGTGGATCTCCG/- GCACAGAAGCAAACACAGCACTAAAACACAGCAGATGCTCTTCATGTCGGCTGTAGATTCGTCTGTTCTGATGAACTCAACACTCGTGTCTGATGATGATGATGATGATGATGATGATGATTCGGGGAAATAAGCTGAATATTCCAACTTCCTGAGAGAGAAATCAGCATTATGATGACTGGCTGGAGAACACTGACCGCACAGCTCATATAACGGTGCATGCGCATGCTGATTAGGGCTGCAAGACATTAGTTATTTTGTGTTATTGCGATGTGAACACAAATTCATCAGATGACTTAATATCTCTATTTGGACAGAATTCATAATGTTAGATCAATTGCATCTACAAAAAATCTAATAAACAATTTATAAACGTTTTGGGGTCCCCCAACACATTATCTTTGTATTCTGGGCTATTTGCAGTGCGTTTCTGTATTTGTATGTGTTGTATTTTCATGCACGTGTTAAGTCAGAGATTGATAAATTAATATTTACTATTT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| engmu130/mu130 | Homozygous | ♀+/- ♂+/- | 6 figures  from 2 publications | 2 figures from Sugden et al., 2017 | |
| engmu130/+ | Heterozygous | Unknown | Fig. S2 from Sugden et al., 2017 | ||
| engmu130/mu130; hu5333Tg; mu240Tg; y7Tg | Complex | ||||
| engmu130/mu130; mu107Tg; s916Tg | Complex | Fig. 5 from Sugden et al., 2017 | |||
| engmu130/mu130; mu156Tg | Complex | Fig. S4 from Sugden et al., 2017 | |||
| engmu130/mu130; mu240Tg; y7Tg | Complex | Fig. 7 from Sugden et al., 2017 | Fig. 7 from Sugden et al., 2017 | ||
| engmu130/mu130; s843Tg; sd2Tg | Complex | Fig. 3 from Sugden et al., 2017 | |||
| engmu130/mu130; s916Tg | Complex | 5 figures from Snodgrass et al., 2023 | 4 figures from Snodgrass et al., 2023 | ||
| engmu130; s916Tg; y1Tg | Complex | Fig. 7 from Sugden et al., 2017 |
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Supplemental Information
- Genotyping protocol
- None
- Seeler, D., Grdseloff, N., Rödel, C.J., Kloft, C., Abdelilah-Seyfried, S., Huisinga, W. (2024) Novel mathematical approach to accurately quantify 3D endothelial cell morphology and vessel geometry based on fluorescently marked endothelial cell contours: Application to the dorsal aorta of wild-type and Endoglin-deficient zebrafish embryos. PLoS Computational Biology. 20:e1011924e1011924
- Snodgrass, R.O., Govindpani, K., Plant, K., Kugler, E.C., Doh, C., Dawson, T., McCormack, L.E., Arthur, H.M., Chico, T.J.A. (2023) Therapeutic targeting of vascular malformation in a zebrafish model of hereditary haemorrhagic telangiectasia. Disease models & mechanisms. 16(4):
- Sugden, W.W., Meissner, R., Aegerter-Wilmsen, T., Tsaryk, R., Leonard, E.V., Bussmann, J., Hamm, M.J., Herzog, W., Jin, Y., Jakobsson, L., Denz, C., Siekmann, A.F. (2017) Endoglin controls blood vessel diameter through endothelial cell shape changes in response to haemodynamic cues. Nature cell biology. 19(6):653-665
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