Genomic Feature
cmg52
- ID
- ZDB-ALT-200727-1
- Name
- cmg52
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Center for Medical Genetics Ghent (CMGG)
- Current Source
- Other Pages
Notes
| Comment | Citation |
|---|---|
| The adult homozygous mutant is initially viable and fertile, but will not breed ... | Van Gils et al., 2018 |
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 6: 11028745 - 11028748 (GRCz11) (1) Details
- Nucleotide change
- TCGG/-
- Variant Notes
-
c.180delTCGG, predicted to result in p.R62CfsX33.
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 4 bp deleted in Exon 2 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
ATGAGTAAATTATGGGTGCACTATCCCTTTAACTTGGAATTACTTTCAGATCTGTTCCTTTAATTAATTTAGTTAAAATTCATGACTTAGTCTCAATAATTTCTCATCCAATAATCGAAAGAGGAAAGCCAGTAATGAGATTGAGCTCGATAAACAAAAACAAGACCAAAACAGTAAACAAAACTTGAGATGTTGAAAAATCAAATCTAATTTTAGATGTTCTGGAGCATTCATATCATATCTGGTTTTGGTGTGGACAGGGTTTGGACTGAGCCATTGTTGATCCCGTGAAAGAATGAAAACGGTCAATTATCATAGAACTGGTTGAGAAGCTAAGCACACCCTTTTCTTTATCTTTAGGACTGGAATCAGACGTGGTACACGCATAGGCCTGAACTGAGCAACTGCTTCCAGAACACAGTCCTTGTGTGGGCTCCGTGCATCTACCTGTGGGTCCTTTCTCCATTTTACTGCCTCCATCTCTACTGCCATGGCCGAGG
TCGG/- CTGCCGCTTTCTTCGCTCTGCAATGCAAAGCTGGTGAGACAAAGCGTTATGAGTTTTTAATATTACATCAGCCTGTTCAATACTCAAAGAATCAGCTTTGTGGACTATAAATCTCAAACCATAGTGTTAACACAAAGTGAACGTGAAAGTGGTCGACTGAGGGGTCGAGTTCAAACTTTAGTGGCCTAGGAAGACAGTAAAAGCAAGTGTGATGTGTGTAACCTCAGTTTGTGGTACATGTGCGTGTGTGGTTAGCACTTTAGTGAGCTCTGATGTCACTTTTCACTCTTCCGCTCTAAAACTCTTTTGTTTGAAATACCGTTGTTCCTCGGTTTGTTAAGGGTTTCGCAGATTCCTCTCCGGTGTTATCACAATGCAAATCGCACCTTGTCTCTACAGTCATTGAGTACTGGAGCTTCCGGAGGAGTGACTCAGTTCTCACCCTGATATGAATTGCATTTCTCTCTTCTGTTCTACAGTTGTTGGGGTTCTTCTTGGCG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| abcc6acmg52/cmg52 | Homozygous | Unknown | 3 figures from Van Gils et al., 2018 | Fig. S2 from Van Gils et al., 2018 | |
| abcc6acmg52/cmg52 (AB) | Homozygous | ♀+/- ♂+/- | 2 figures  from Van Gils et al., 2022 |
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Supplemental Information
- Genotyping protocol
- None
- Van Gils, M., Willaert, A., Coucke, P.J., Vanakker, O.M. (2022) The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma Elasticum. Frontiers in pharmacology. 13:822143
- Van Gils, M., Willaert, A., De Vilder, E.Y.G., Coucke, P., Vanakker, O.M. (2018) Generation and Validation of a Complete Knockout Model of abcc6a In Zebrafish. The Journal of investigative dermatology. 138(11):2333-2342
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