Genomic Feature
m201
- ID
- ZDB-ALT-980203-523
- Name
- m201
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Driever Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 20: 18786775 (GRCz11) (1) Details
- Nucleotide change
- G/T
- Variant Notes
-
mutation results in an incomplete PTB domain.
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>A in Exon 4 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Tyr>Stop (1)
- Flanking Sequence
-
ACTGTTCTTTGAGGCAGACCAAACATTTCAAAAGATGTGAATTATGCAAATTTGTAACATGTATGGTGCTTTTCAGATTTACACAAGTGTAAAAATCTAAAAAGGCCAAAATAGGCACCCTTAGAATGACAAAAGCTAACCTTGTTGTCAACAGCCAGCACAAGCAGACAGCAGACCTCCACCAGCACAGCCCCACTCTCAGATAGAGAGCTCAGAGTGGGAGATTTCGACATCTCTGTACTATGACATGGGGAACCTCCGGGCTCCTGAGCTGCAAACACAAATTATACAAACCTTTACATATTTTTCACATATTTCACTCTAAATCTTGAACCCACTGTGTTTAATTTAATGCTCATTAATTGACCTCATTACCGTATACCTGTTTTTAGCACCACTAGATGAAGCGAGTCGTCTCTGATGTAGGACACAGCTGCAATGTCGTGGATGGGTACGCGCAGAATGATGTCCTCTCCATCACGCCACACAAGCTTCACATT
G/T TACGCTGATAAACTGACAACAGCATCCTGCTCTGAGGTCAGCTGCCCAGCCAACTGATGAGACTTCTGCACAAGATATAAGAGAACCAATGTGAAAACATATCCTCATGTTGCAAAATAAAACAGTTTATGAGTATCGAGCTTACCCTGGCATTGTCAATGAGCTGCAGAACTTCAGTGCGGCTGGAGGGATTCAGGTATCCAGGAACTGAGGTCAGCTGTCCCAGATACTACAACAATAATAACAATGTTATTAATTATAGAGCCTTCCTAGAATACAATTGAGCACAGTTAACAAGAAAATAATATTAAAAACAAAATATTAATTTATAAATAATCACAAAAAAATACAGGGCACATTAAAAGATTGCATCAACATCCAGGGGAGAAGTACTGAATAACTAGCTATGGGAGGGATCACAGAAGTGGATATAGATTTGGGTATCGGCAGCATAACAGTGGAATTTAGGGATGTAACTGATCACGGTTGATCCATAATCC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| ccm2m201/m201 | Homozygous | ♀+/- ♂+/- | Figure 3 - figure supplement 1  from Li et al., 2021 | 4 figures from Renz et al., 2015 | |
| ccm2m201/m201 | Homozygous | Unknown | 2 figures from 2 publications | ||
| ccm2m201/m201 (AB) | Homozygous | Unknown | 2 figures from 2 publications | Fig. 1 from Mably et al., 2006 | |
| ccm2m201 | Unknown | Unknown | Fig. 1 from Serluca et al., 2002 | ||
| ccm2m201/m201; s843Tg | Complex | 5 figures from 2 publications | 4 figures from 2 publications | ||
| ccm2m201/m201; s940Tg | Complex | Fig. 4 from Donat et al., 2018 | Fig. 4 from Donat et al., 2018 | ||
| ccm2m201/m201; twu34Tg | Complex | Fig. 5 from Renz et al., 2015 | Fig. 5 from Renz et al., 2015 | ||
| ccm2m201/+ + MO3-ccm2l | Complex | Fig. 3 from Cullere et al., 2015 | |||
| ccm2m201/+ + MO4-ccm2l | Complex | Fig. S2 from Cullere et al., 2015 | |||
| ccm2m201/m201; s843Tg + MO1-egfl7 | Complex | Fig. 4 from Renz et al., 2015 | Fig. 4 from Renz et al., 2015 |
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Supplemental Information
- Genotyping protocol
- None
- Pham, V.C., Rödel, C.J., Valentino, M., Malinverno, M., Paolini, A., Münch, J., Pasquier, C., Onyeogaziri, F.C., Lazovic, B., Girard, R., Koskimäki, J., Hußmann, M., Keith, B., Jachimowicz, D., Kohl, F., Hagelkruys, A., Penninger, J.M., Schulte-Merker, S., Awad, I.A., Hicks, R., Magnusson, P.U., Faurobert, E., Pagani, M., Abdelilah-Seyfried, S. (2024) Epigenetic regulation by polycomb repressive complex 1 promotes cerebral cavernous malformations. EMBO Molecular Medicine. 16(11):2827-2855
- Grdseloff, N., Boulday, G., Rödel, C.J., Otten, C., Vannier, D.R., Cardoso, C., Faurobert, E., Dogra, D., Tournier-Lasserve, E., Abdelilah-Seyfried, S. (2023) Impaired retinoic acid signaling in cerebral cavernous malformations. Scientific Reports. 13:55725572
- Lazzaroni, F., Meessen, J.M.T.A., Sun, Y., Lanfranconi, S., Scola, E., D'Alessandris, Q.G., Tassi, L., Carriero, M.R., Castori, M., Marino, S., Blanda, A., Nicolis, E.B., Novelli, D., Calabrese, R., Agnelli, N.M., Bottazzi, B., Leone, R., Mazzola, S., Besana, S., Catozzi, C., Nezi, L., Lampugnani, M.G., Malinverno, M., Grdseloff, N., Rödel, C.J., Rezai Jahromi, B., Bolli, N., Passamonti, F., Magnusson, P.U., Abdelilah-Seyfried, S., Dejana, E., Latini, R. (2023) Circulating biomarkers in familial cerebral cavernous malformation. EBioMedicine. 99:104914104914
- Li, W., Tran, V., Shaked, I., Xue, B., Moore, T., Lightle, R., Kleinfeld, D., Awad, I.A., Ginsberg, M.H. (2021) Abortive intussusceptive angiogenesis causes multi-cavernous vascular malformations. eLIFE. 10:
- Donat, S., Lourenço, M., Paolini, A., Otten, C., Renz, M., Abdelilah-Seyfried, S. (2018) Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis. eLIFE. 7:e28939
- Otten, C., Knox, J., Boulday, G., Eymery, M., Haniszewski, M., Neuenschwander, M., Radetzki, S., Vogt, I., Hähn, K., De Luca, C., Cardoso, C., Hamad, S., Igual Gil, C., Roy, P., Albiges-Rizo, C., Faurobert, E., von Kries, J.P., Campillos, M., Tournier-Lasserve, E., Derry, W.B., Abdelilah-Seyfried, S. (2018) Systematic pharmacological screens uncover novel pathways involved in cerebral cavernous malformations. EMBO Molecular Medicine. 10(10)
- Cullere, X., Plovie, E., Bennett, P.M., MacRae, C.A., Mayadas, T.N. (2015) The cerebral cavernous malformation proteins CCM2L and CCM2 prevent the activation of the MAP kinase MEKK3. Proceedings of the National Academy of Sciences of the United States of America. 112(46):14284-9
- Renz, M., Otten, C., Faurobert, E., Rudolph, F., Zhu, Y., Boulday, G., Duchene, J., Mickoleit, M., Dietrich, A.C., Ramspacher, C., Steed, E., Manet-Dupé, S., Benz, A., Hassel, D., Vermot, J., Huisken, J., Tournier-Lasserve, E., Felbor, U., Sure, U., Albiges-Rizo, C., Abdelilah-Seyfried, S. (2015) Regulation of β1 Integrin-Klf2-Mediated Angiogenesis by CCM Proteins. Developmental Cell. 32:181-190
- Shin, J.T., Pomerantsev, E.V., Mably, J.D., and MacRae, C.A. (2010) High-resolution cardiovascular function confirms functional orthology of myocardial contractility pathways in zebrafish. Physiological Genomics. 42(2):300-309
- Mably, J.D., Chuang, L.P., Serluca, F.C., Mohideen, M.A., Chen, J.N., and Fishman, M.C. (2006) santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish. Development (Cambridge, England). 133(16):3139-3146
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