Genomic Feature
sny15
Notes
No data available
Variants
- Variant Type
- Delins
- Variant Location
- Chr 14: 36227643 - 36227650 (GRCz11) (1) Details
- Nucleotide change
- TGTCGAC/GGAGAGAGAGAGGAGAGG
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 18 bp inserted / 7 bp deleted (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
ATGCATGCTGCATTTATGGCGGTTAAAATATTTTCTAAATCCTGCATTAGCATTTGAACATTGAATTTTTACCGGTACTGTTGGCTTTGCCAGAAAAAAGGATGTTAGGATGTTAAAACGAGCGTTATAATAAATTTAATTCAGGAACATCATTAATTAAATTTCGCCCGTTAAATTGTTACCAGGGAACCAACTTGTTATGTTACCATGATGTCAAATATCTTCAATTCAATAAAAAGGAATTAGAGATTTGTCTCCCTCACGCACACTTCTCTAATGTGTCAAAACCGTGCCTGAAGCTTGTTCCTCTGCAATTAAATATTTGTTTAAAAAGAGTGTTTCCTTTTGCATTACAGAGAAAGAAAAGGGACAAAGTAAAAACGAAGATTCGAACGATGACCCGTCGAAAAAGAAGAGACAAAGGCGGCAACGAACGCATTTTACTAGCCAGCAGTTACAGGAACTGGAGGCCACTTTTCAGAGGAATCGCTATCCGGACA
TGTCGAC/GGAGAGAGAGAGGAGAGG AGAGAGGAGATCGCCGTTTGGACAAATTTAACAGAGGCCAGAGTCCGAGTAAGTTTGATAAATAAAATTACAAGAAAATAATATGTGATATAACCCTAAATATTTTTATAGTTTTTCTTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGAATTAAATCTATTATTTACTATTAAAATTCAACATAGCCTATCAGCTTAATGCTGAATTAAACGTAACGTAATTTTAGTGCATATTTCATAGATCCACTAACAATAAAAATAAAGATATATTTCTGAAATATATATTTTTTTGCGTTGTTGTATGTGTTTTACATGTAAATATTTTGTTCATACATTAACTTACTTTTTAGCTAGTCTAATATGCAGGCGCTGCATTCTATGCTTGCTAATTTTCCATAACGTTAATTGGGTTGCATGCTAAATATGATTTTGTTTAATTGTTTAAATAAAAAAATCTGTCATTGTA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| pitx2sny15/sny15 (AB/TU) | Homozygous | ♀+/- ♂+/- | 3 figures  from Ji et al., 2016 | Fig. 8 from Ji et al., 2016 | |
| pitx2sny15/+ (AB/TU) | Heterozygous | ♀+/- ♂+/- | Fig. 8 from Ji et al., 2016 | Fig. 8 from Ji et al., 2016 |
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Supplemental Information
- Genotyping protocol
- None
- Vöcking, O., Van Der Meulen, K., Patel, M.K., Famulski, J.K. (2022) Zebrafish anterior segment mesenchyme progenitors are defined by function of tfap2a but not sox10. Differentiation; research in biological diversity. 130:324232-42
- Ji, Y., Buel, S.M., Amack, J.D. (2016) Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs. Developmental Biology. 416(1):69-81
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