Genomic Feature
au18
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 12: 22339551 (GRCz11) (1) Details
- Nucleotide change
- G/T
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>A at position 893 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Ser>Stop at position 297 (1)
- Flanking Sequence
-
GGTGCCGAGTGATCTCTTCAATGTCATGTAGTCACACAGTCTACCAGCACAACATCACACTCGCAACACAGCCAGAACCAGCAGATCTCTGCCAGCACATCACTCTTGGAAAAAACAAACTATGATAATGTTTCTAAGCAAACACAAGGCCATTTACAGTAATTCGGTAAGTATATTTCAGCAATTTGGAGTTATTTGTAGAGCAGCTGGAGCACCCAAAACTGGGAACAGCATCCTTTGTGCAAACCCCAAAAAAGTTTTTATTTTTTGACTGTTGACAGAGGAACCTTTCTTTAACGTGTCAAATATCGGCGGGTTCCGTCACAGAGCCAGATGAATGTAAGGTTGTGCAAAAAAGTCTGTGAATGCATGGAAACAACACAAGTTTTTTCCCCAAGCGTGCAATGTGTTGAATAATTTGCACAAAATGCCATCTCTGGTTTCGTACCCTCTTCTGTTCCTCCTCAGCATCAGCGAATAGCTTTCTGATGTTGGCCTCC
G/T ATTCTCCCACGTATTTGTTCAAAATCTCTGGCCCGTTGACCACTTTTGGCTCTCTGGCGTTCAGCATCTTTCCAATCTGCCGTGCCATTAGGGTTTTACCACAGCCGGGTGGTCCATACAGCAAGATTCCCTTCACGTGCTTGCAACCTAAGGAAAGAGAAAAGGGGTTGAGGAATGCTGAAGCATGATCACAGAATAATATAGTTGAATATAAAGGGCGCTCGCAAAAAGAAAAAGAAAAAAAAAAGTGTCACAATGGTATTCATTTTGTTATAATATAGTTTTAAAGTACTTTTGGTATTTACAAATGTTTCCATTAGCGCTGGGTGATATGGCAAAAATGCAATCTCGATAACTATTTTCCATATTGAACTATAACAATATATATTTCGCTATAAATGCTTCCAGATTTAAGAGAGTATGCCAACAATGACTGAAGATACAAAAATTAGAGGGTCCATTAAATTGCATAAACCTTTCGTCCGATAATTTTTCGATGG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| nsfbau18/au18 | Homozygous | ♀+/- ♂+/- | Fig. table from Lee et al., 2012 | ||
| nsfbau18/au18 (AB) | Homozygous | ♀+/- ♂+/- | 3 figures  from Hanovice et al., 2015 | Fig. 3 from Hanovice et al., 2015 | |
| nsfbau18/+ (AB) | Heterozygous | Unknown |
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Supplemental Information
- Genotyping protocol
- None
- Hanovice, N.J., Daly, C.M., Gross, J.M. (2015) N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium. Investigative ophthalmology & visual science. 56:7535-7544
- Lee, J., Cox, B.D., Daly, C.M., Lee, C., Nuckels, R.J., Tittle, R.K., Uribe, R.A., and Gross, J.M. (2012) An ENU Mutagenesis Screen in Zebrafish for Visual System Mutants Identifies a Novel Splice-Acceptor Site Mutation in patched2 that Results in Colobomas. Investigative ophthalmology & visual science. 53(13):8214-8221
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