Genomic Feature
zf711
- ID
- ZDB-ALT-170608-3
- Name
- zf711
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with zinc finger nuclease
- Lab of Origin
- Jim Dowling Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 7: 25840361 - 25840368 (GRCz11) (1) Details
- Nucleotide change
- TAGAAAAG/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 8 bp deleted in Exon 5 (1)
- Transcript Consequence
- Frameshift (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
TTTGTTTATATCAAGTTGTCATTATAATGTCATCTTGCATTTAAAATGACATAAGTGACACTAAATAATAGTTGTCATAAACATGCATAGTCTCATTCACAATTTCTTTCTTTTTTTTTTTCTTTACATAAATACTCACCAAGATGGGAATTTCTGCACATAACTATGTATTTTAATGTTCAAACGCACTTGGTATTGCCAAAGCATATAGTGCAGCCTTTTCTATGGTTTTCAATGACTGGGGCTCACACATTTTATTTTATTTTATTTTATTTTACAAAACACTGGAGTTTGTTATGGCCTAATGATTTTTGCACTGTTCTTTATGTGTTGGATGTGTGTATTATAAAATTTATTATTAGCATGGAGTGAAAAATGTAATTTCTTAGGTGTTTACAGTATGTGCAGGATTGCTGGTATTACAGTATTTATTATCTCTGTCGTTTGTCTTAAGGAGACACCAGTTACCCTGAACATCCCCTTAGGTGTCATAAGCCGTG
TAGAAAAG/- ATGGGCGGAGCCTCCAGTCGAGGAGAAAACTCTTACGGGCTTGAAATCACCTGCAAGGTATCGCCCTCACAAAGCCCTTTTTTTATTTTAACTAATAGTTAAGATAAAATATTTGCATGTTAAGTGTAATATTGCTACGAAGTCATTTCTGAATATCTTCGATAGATTTTAGTATATTTGTGTGTTTTTATAGAACTTTTAATGCAGCTGCTTCTTCAAATATTGCAACACAATTAAGATGTTAAAAGGTTTGCTTAAAGCAGAACCAGCTTCTTGAAAGCTTGACATTTAACATTATAAAATTCATTGCGTGCTTGTGTGTGTGTGTGTGTGCGTATTAGGACATGAGGAACCTGCGATTTGCTCTGAAGCAAGAAGGCCACAGTCGAAGGGACATCTTTGAGATTATTTTCAAATACGCTTTCCCACTTTCTCACGGAATGGTCAGTATTTAAATGTGCTCACAATTTCTATATCTCACACACATATTGAAACATTAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| mtm1zf711/zf711 | Homozygous | ♀+/- ♂+/- | 5 figures  from 2 publications | ||
| mtm1zf711/zf711 (AB) | Homozygous | ♀+/- ♂+/- | 4 figures from Sabha et al., 2016 | ||
| mtm1zf711/+ | Heterozygous | ♀+/- ♂+/- | Fig. 1 from Volpatti et al., 2022 | ||
| mtm1zf711/zf711 + MO1-pik3c2b (AB) | Complex | Fig. S10 from Sabha et al., 2016 | |||
| mtm1zf711/zf711 + MO1-hdac1 + MO1-tp53 | Complex | Fig. 1 from Volpatti et al., 2022 | |||
| mtm1zf711/zf711 + MO1-hdac3 + MO1-tp53 | Complex | Fig. 1 from Volpatti et al., 2022 | |||
| mtm1zf711/zf711 + MO1-hdac6 + MO1-tp53 | Complex | Fig. 1 from Volpatti et al., 2022 | |||
| mtm1zf711/zf711 + MO1-hdac8 + MO1-tp53 | Complex | Fig. 1 from Volpatti et al., 2022 |
1 - 8 of 8
Show
Supplemental Information
- Genotyping protocol
- None
- Karolczak, S., Deshwar, A.R., Aristegui, E., Kamath, B.M., Lawlor, M.W., Andreoletti, G., Volpatti, J.R., Ellis, J.L., Yin, C., Dowling, J.J. (2023) Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy. The Journal of Clinical Investigation. 133(18):
- Espinosa, K.G., Geissah, S., Groom, L., Volpatti, J., Scott, I.C., Dirksen, R.T., Zhao, M., Dowling, J.J. (2022) Characterization of a novel zebrafish model of SPEG-related centronuclear myopathy. Disease models & mechanisms. 15(5):
- Volpatti, J.R., Ghahramani-Seno, M.M., Mansat, M., Sabha, N., Sarikaya, E., Goodman, S.J., Chater-Diehl, E., Celik, A., Pannia, E., Froment, C., Combes-Soia, L., Maani, N., Yuki, K.E., Chicanne, G., Uusküla-Reimand, L., Monis, S., Alvi, S.A., Genetti, C.A., Payrastre, B., Beggs, A.H., Bonnemann, C.G., Muntoni, F., Wilson, M.D., Weksberg, R., Viaud, J., Dowling, J.J. (2022) X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathologica. 144(3):537-563
- Sabha, N., Volpatti, J.R., Gonorazky, H., Reifler, A., Davidson, A.E., Li, X., Eltayeb, N.M., Dall'Armi, C., Di Paolo, G., Brooks, S.V., Buj-Bello, A., Feldman, E.L., Dowling, J.J. (2016) PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models. The Journal of Clinical Investigation. 126(9):3613-25
1 - 4 of 4
Show