Genomic Feature
idv8
- ID
- ZDB-ALT-241122-2
- Name
- idv8
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one delins (1)
- Protocol
- embryos treated with
- Lab of Origin
- Del Bene Lab
- Current Source
- Other Pages
-
Notes
No data available
Variants
- Variant Type
- Delins
- Variant Location
- Chr 4: 9363054 - 9363144 (GRCz11) (1) Details
- Nucleotide change
- GGCCGGTGGACGGGTGTACTGGACAAGATTAACCTGTATCTGCAGTCGCAGAACAGTGGCAGCTGGTACGGCAGTCTGCTCGCACTTTACC/TGGACAAGATTAACCTTGATCTTCCTTGGACAAGATTAA
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 39 bp inserted / 91 bp deleted in Exon 4 (1)
- Transcript Consequence
- None
- Protein Consequence
- None
- Flanking Sequence
-
AGATCATCAACTTCGCCCCAACTCTTCTACAGATCATAGTGTCGGAGCAGGTGGAGTTTCCCGTGCGACAGGCAGGTAAGAACCTCTCTTTTCCTACAGCCAGTCACAATCCCCTTCCCAATTGAATCGTTCAGGGTCGAGATCTTCCCCTTTACCAATGGTCAATTTTGATTGGATGAAATAACCAATGACGTCACATTCATCCTCCAGCTGCCATCTACCTGAAGAACATGGTGAGTCAGTACTGGCAGGACCGGGAGCCTACACTGGGAGAGGTGGTGTTTCCCTTCAACATCCATGAAAATGACCGCGGACAGATCCGAGAAAACATGGTGGAGGCCATTATTCGTTGCCCTGAGTCCATAAGGCAAGTCACAATGTTTTCATTTCATAATGACAGTCGTTAGAACCTAAAAATTAACTCTCTTTTTTTGTTGTTGTTGTTTGGCAGGGCTCAGTTAACAGTATGCTTGCGGGCCATAATAAAGCATGATTTTCCT
GGCCGGTGGACGGGTGTACTGGACAAGATTAACCTGTATCTGCAGTCGCAGAACAGTGGCAGCTGGTACGGCAGTCTGCTCGCACTTTACC/TGGACAAGATTAACCTTGATCTTCCTTGGACAAGATTAA AGCTCGTCAAAAACTATGAGTGAGTGAAACACGACACTTTTGACTCTCTTGAGGATTTGTTGTTGTAAAAGTTCCCGTGATTGTTATGAAGGTGTCCTAAAATACATTTGCATCCATCCAAGGTTAAAAACACATAAGCTGCGTCCCAAATGGCACACTATGCACTCATGCACTATGTACTTATGCACTTACACACTCAACAGGATAGTATATGTATGTAGTATCGTCCCAAATGGCACACTAATGTTTTTTTACTAAGCGGAAATTCAAACCGTCTCCCTAATGATGTTTGACGGTTGCCTTTTCAGTGAAATAAACAACCGAATTATCAAATAATACCTGCCGTGAGTATAACCGCATTCTCCATCGGGAGGCGCTATGATCCCTCTCGTAGGAGAATTTTGCTTTTACTATCCAAAATAAATAAAGGTATCCAACATATGCGCCCGATAGCTCCGCCCCTTCCGCTACGTGAGCAAAACTGCGGTCGTTGAGTGCGT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| ipo8idv8/idv8 (TU) | Homozygous | ♀+/- ♂+/- | text only from Ziegler et al., 2021 | ||
| ipo8idv8/idv8 (TU) | Homozygous | ♀-/- ♂-/- | 5 figures  from 2 publications | 2 figures from 2 publications | |
| ipo8idv8/+ (TU) | Heterozygous | ♀+/+ ♂-/- | Figure 6. from Mbarek et al., 2023 | Figure 6. from Mbarek et al., 2023 | |
| ipo8idv8/+ (TU) | Heterozygous | ♀+/+ ♂+/- | Figure 6. from Mbarek et al., 2023 | ||
| ipo8idv8/+ (TU) | Heterozygous | ♀-/- ♂+/+ | Figure 6. from Mbarek et al., 2023 | Figure 6. from Mbarek et al., 2023 | |
| ipo8idv8/+ (TU) | Heterozygous | ♀+/- ♂+/+ | Figure 6. from Mbarek et al., 2023 | ||
| ipo8idv8/idv8; s916Tg (TU) | Complex | Fig. 4 from Ziegler et al., 2021 | Fig. 4 from Ziegler et al., 2021 |
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Supplemental Information
- Genotyping protocol
- None
- Mbarek, H., Gordon, S.D., Duffy, D.L., Hubers, N., Mortlock, S., Beck, J.J., Hottenga, J.J., Pool, R., Dolan, C.V., Actkins, K.V., Gerring, Z.F., Van Dongen, J., Ehli, E.A., Iacono, W.G., Mcgue, M., Chasman, D.I., Gallagher, C.S., Schilit, S.L.P., Morton, C.C., Paré, G., Willemsen, G., Whiteman, D.C., Olsen, C.M., Derom, C., Vlietinck, R., Gudbjartsson, D., Cannon-Albright, L., Krapohl, E., Plomin, R., Magnusson, P.K.E., Pedersen, N.L., Hysi, P., Mangino, M., Spector, T.D., Palviainen, T., Milaneschi, Y., Penninnx, B.W., Campos, A.I., Ong, K.K., Perry, J.R.B., Lambalk, C.B., Kaprio, J., Ólafsson, Í., Duroure, K., Revenu, C., Rentería, M.E., Yengo, L., Davis, L., Derks, E.M., Medland, S.E., Stefansson, H., Stefansson, K., Del Bene, F., Reversade, B., Montgomery, G.W., Boomsma, D.I., Martin, N.G. (2023) Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity. Human reproduction (Oxford, England). 39(1):240-257
- Ziegler, A., Duclaux-Loras, R., Revenu, C., Charbit-Henrion, F., Begue, B., Duroure, K., Grimaud, L., Guihot, A.L., Desquiret-Dumas, V., Zarhrate, M., Cagnard, N., Mas, E., Breton, A., Edouard, T., Billon, C., Frank, M., Colin, E., Lenaers, G., Henrion, D., Lyonnet, S., Faivre, L., Alembik, Y., Philippe, A., Moulin, B., Reinstein, E., Tzur, S., Attali, R., McGillivray, G., White, S.M., Gallacher, L., Kutsche, K., Schneeberger, P., Girisha, K.M., Nayak, S.S., Pais, L., Maroofian, R., Rad, A., Vona, B., Karimiani, E.G., Lekszas, C., Haaf, T., Martin, L., Ruemmele, F., Bonneau, D., Cerf-Bensussan, N., Del Bene, F., Parlato, M. (2021) Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. American journal of human genetics. 108(6):1126-1137
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