Genomic Feature
pd1049
- ID
- ZDB-ALT-121210-2
- Name
- pd1049
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one delins (1)
- Protocol
- embryos treated with
- Lab of Origin
- Bagnat Lab
- Current Source
- Other Pages
Notes
| Comment | Citation |
|---|---|
| The cftr pd1049 mutation is a TALEN-produced indel producing a frameshift, ... | Navis et al., 2013 |
Variants
- Variant Type
- Delins
- Variant Location
- Chr 18: 20685227 - 20685233 (GRCz11) (1) Details
- Nucleotide change
- GGATATC/ATGTATATGTGTATTTTATAC
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 21 bp inserted / 7 bp deleted (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
TTCCGGCTCTAATAATATTGAAGCGCAACAGAAAGGGTATTGAATCTTGATCTCCAAAAGTTTTCTAATTTAGGGCAAATCTAGAATGTGTGCATTAAAGTACCCCCAGCTGCCTGGCATCTATTACACAAAGAGCTAACACCAGGTTTATGGATGGAGTGTATTTAAATGAATCATGCAATGTGATTTATTTGCAATAGGCTTGTGTTAGCCAGCAGGCTGTCTGTGCAGATAATAAAATACACTAACCTTATTATAATCAGATTTGCTTGTTTCTGACTTGATTTGACATTATAAAAATAAGCTTCTGCATCTGTATTCTTAAATTTGTTCATTCATAGTAGATCACTTGCAGAACTTTCTGCTCCTTTTGGAGCTTTTATGCCCTATTAGTAAATTTGGGCCTAAATTTCAAATGATTTGCTTTTTAAAAGTGCTTAATGTCTCATACATTTCTTTTGTTTTTTTCCTACAGAGCCTGGGTATGGCCCATTTTATAT
GGATATC/ATGTATATGTGTATTTTATAC ACCACTGCAATGCATCCTGTGTACAGGGCTTATCTGGGAACTCATTGATGTCAATAGCTTCTGTGCACTTGCCGCCATCTCTTTACTGGGTGTTTTGCAGGCCTTCCTTTCACATAAAATGGGTCCTTACAAGTAAGTCTCATATTAGCCTACTGTGCATCCAAATACCAAAAAGTTAATCGTGTCTTACTCTAATAAACTTTGGCAGAGATTTTGCAGAAGTATTTTTATGCTCCCACAGAAACACGCGCATTCCAATTGTGATTCATCCCAAAAGCTTTGAAGAGTTTGGACAGGTAGTTCAGTGCTGCTCCTGTAATCAGGAGGCTGGATAGCCTTGTGCCTTTGAGAAATGTAAACAATGTTGGTCAGAACCGCCACCGAGACAGATTATCACAAGTGTAATTCCGAGTGGGCATTTAGTGTCTGTATTCAGTGTCAGTATAGGCATCATGCTTAGTCAGATGTATTAAACACCCACGTTGGAGTGTTTATGTCAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| cftrpd1049/pd1049 | Homozygous | ♀+/- ♂+/- | 5 figures  from 2 publications | Fig. 2 from Navis et al., 2013 | |
| cftrpd1049/pd1049 | Homozygous | Unknown | Fig. 1 from Bernut et al., 2019 | ||
| cftrpd1049/pd1049 (AB) | Homozygous | ♀+/- ♂+/- | 2 figures from Navis et al., 2015 | ||
| cftrpd1049 (AB) | Unknown | Unknown | |||
| cftrpd1049/pd1049; gz15Tg | Complex | 3 figures from 2 publications | 3 figures from 2 publications | ||
| cftrpd1049/pd1049; gz15Tg; m1018Tg | Complex | Fig. 5 from Navis et al., 2015 | |||
| cftrpd1049/pd1049; jh1Tg | Complex | Fig. 4 from Navis et al., 2015 | |||
| cftrpd1049/pd1049; nz50Tg | Complex | Fig. 6 from Navis et al., 2015 | Fig. 6 from Navis et al., 2015 | ||
| cftrpd1049/pd1049; pd1041Tg | Complex | Fig. 8 from Navis et al., 2013 | |||
| cftrpd1049/pd1049; pd1080Tg | Complex | Fig. 4 from Navis et al., 2013 | Fig. 4 from Navis et al., 2013 |
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Supplemental Information
- Genotyping protocol
- None
- Bernut, A., Dupont, C., Ogryzko, N.V., Neyret, A., Herrmann, J.L., Floto, R.A., Renshaw, S.A., Kremer, L. (2019) CFTR Protects against Mycobacterium abscessus Infection by Fine-Tuning Host Oxidative Defenses. Cell Reports. 26:1828-1840.e4
- Delaspre, F., Beer, R.L., Rovira, M., Huang, W., Wang, G., Gee, S., Vitery, M.D., Wheelan, S.J., Parsons, M.J. (2015) Centroacinar cells are progenitors that contribute to endocrine pancreas regeneration. Diabetes. 64(10):3499-509
- Navis, A., Bagnat, M. (2015) Loss of cftr function leads to pancreatic destruction in larval zebrafish. Developmental Biology. 399(2):237-48
- Navis, A., Marjoram, L., and Bagnat, M. (2013) Cftr controls lumen expansion and function of Kupffer's vesicle in zebrafish. Development (Cambridge, England). 140(8):1703-1712
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