Genomic Feature
sa18624
- ID
- ZDB-ALT-131217-14624
- Name
- sa18624
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation
- Protocol
- adult males treated with ENU
- Lab of Origin
- Stemple Lab
- Current Source
-
Zebrafish International Resource Center (ZIRC)
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European Zebrafish Resource Center (EZRC) ( order this ) - Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 23: 24519866 (GRCz11) (1) Details
- Nucleotide change
- A/C
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>G (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
TATTATTATTATTAATGGTAATAGTAATAAAGCAATAACGACTGGAATAATCATTTCATTTGAAACTACATACAATAAGTAATAAATAAATATTTATTAAATAAGTATTTAACAATTTCTTTACATTTAATAAATGTCACCTTGATGAACAGAATAATTTTATTTAAAATATTAAATAAAATTTATGATTAAAAAAAAAAACCTTTTGACCCGTAGTGTATATAATTAGATTAACTATTCTTTTAAGCAAATGTACATTACTTTTTTCAGTTCCATTTACTGTCAAATTTTAAACATGGACTCACTTGAGTTTCTGCAGAGCTTTAACCAGCTGGGTTTTCTGTTCAGGGGTCATTCGGGCGTAAATTGTCCCCCTCATCAAAACCTGAAACACAGAAACGCAGAGTGCTGTTGGCAATCTTCAAAAAAAACGCACATTACCAGTCTAAAACAGGAATGAATCAATATTTGTAAAACTCAATCCAAGTCACCTTGGGTAG
A/C TATTCAGGGAAATGATCACAAAGTGCTGCAAAGGACATCCCATTTATAGCCAGATGATAGCCAACAGCGCTCTGGTACTGACCCTTACAATGCAGGAAGAGGAAATATTAATCTCTTTTTTGCTGTTCTGTATAGGGTATTATCAGGTGATGTGTCATTGGTAACGTCTATTAAAGGGATAGTACATCTAAAATTTCTGTCATAATTTTTGCACTCTTTACTTCTTTCAAACCTGTTTGAGTTTTTTTCTCCTGTTGAACACGAAATAATATTGAGGAAAGCCGAAACCTGTAACTATTGGCATTCATACTAGAGCTGCTAAATATACCATTTCAGCAATGATATCGCAATGTGACCATTCGCAATAGTCACATCACAGGGCTCTGCAATGTAACTGGGATTATAGTTGACTAGATATATAACAATATAGTGGAGTCATTTCAGATTTTAACCTTCAGAGTGAAAGTTTATTATTTGCATGTTTTCAGGACTCGGCTGTA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| atp13a2sa18624/sa18624 | Homozygous | ♀+/- ♂+/- | 3 figures from Heins-Marroquin et al., 2019 | ||
| atp13a2sa18624/+ | Heterozygous | Unknown | Fig. S4 from Heins-Marroquin et al., 2019 | ||
| atp13a2sa18624/sa18624 + MO1-atp13a2 | Complex | Fig. S7 from Heins-Marroquin et al., 2019 |
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Supplemental Information
- Genotyping protocol
- None
- Heins-Marroquin, U., Singh, R.R., Perathoner, S., Gavotto, F., Merino Ruiz, C., Patraskaki, M., Gomez-Giro, G., Kleine Borgmann, F., Meyer, M., Carpentier, A., Warmoes, M.O., Jäger, C., Mittelbronn, M., Schwamborn, J.C., Cordero-Maldonado, M.L., Crawford, A.D., Schymanski, E.L., Linster, C.L. (2024) CLN3 deficiency leads to neurological and metabolic perturbations during early development. Life science alliance. 7(3):
- Heins-Marroquin, U., Jung, P.P., Cordero-Maldonado, M.L., Crawford, A.D., Linster, C.L. (2019) Phenotypic assays in yeast and zebrafish reveal drugs that rescue ATP13A2 deficiency. Brain communications. 1:fcz019
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