Genomic Feature
sa1383
- ID
- ZDB-ALT-120411-141
- Name
- sa1383
- 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) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 25: 17950493 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
CTTCTGAAGAGCATCTACAGTGGGTCCATCGCTCTCAACCTGAGCCTGCGCACACAAACAAAAAATATGCTCATATTGGTTATATCTGCAAATATTCTGATCTGCAGTGTGTCTTTATTAAAGCACTTTTTGTAAACAGGTTTTGAAAGTTGAACGGTGCTAAATAAAGTTAATTGAATCACTTTAAATGTAAAAGAAGCAGATAGGACTATGACTATAGCTTCTAATGGCTCTGTTTATTTCTTCCCAAAGGCTGCAACCTTTGATAAGAGCGAGGAGGTGCACAATAGTGTCTAGACGTATTCACTGCTATCAAAGAAGGGCTCTGTTCATCCAGACAGTGAGCAGAAGCTCTTCATTTTTCGAGGAAAAAGAAAAGGACGCTGACTCACTGTCCAAGTGCTTTTGAATAACTCAAGAAGAGCAAGACAAGATTTTCATGACCTTAACCATTCACAGTACAGGGACTGCAAAAAAAAAAAGAAAAATGCATTTGACCT
G/A TAGGCCACTGCTGAGCCTCTGAATCTTCTTCTTCAGCTCATTCAAGTGTTCCTCCAAAGCCTCCTTTTCACTCTGCAGCTTATTCTGTGATTTTTGGCTCCTCTGAAGATCCTTGTTCAAGGTCTCCAGGTCCTCTTTAAGGGAGTTTTCTCTGGCTTTTGCCGCTCGTACTCCATCCTTAGCCAGCTGGAGCTCCTCATTAAGGTCTCTCACACAAGCCTGATGGGGAACATGGGGAACATTATTTGCTTTGTTAGGGCTCGGATAAAATTCAGTCCTCTTAAAATTTTAAGGGTCATAAAATGTTGAAAGTTCATTCGTTGTTCCAATCAGTTACATTTAAAGGTATTTTATGATTGACAAACGATGACCAAAATATACTCTTCAACGCTTCACAAACAATTATTAAAGGTAACTGGCCGATTTAAAAAATAAAACAAATAAATTTAAAAGAGCCATTTAAAATGAGCACTTTTCATCATATTTTAATGTTATGAATT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| cep290sa1383/sa1383 | Homozygous | ♀+/- ♂+/- | 4 figures  from 2 publications | 2 figures from Leventea et al., 2021 | |
| cep290sa1383/sa1383 (TL) | Homozygous | ♀+/- ♂+/- | text only from Busch-Nentwich et al., 2012 | ||
| cep290sa1383/+ | Heterozygous | ♀+/- ♂+/- | Fig. 1 from Leventea et al., 2021 | ||
| bbs2sa2952/+; cep290sa1383/+ | Complex | Fig. 4 from Leventea et al., 2021 | |||
| bbs9sa14425/+; cep290sa1383/+ | Complex | Fig. 4 from Leventea et al., 2021 |
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Supplemental Information
- Genotyping protocol
- None
- Leventea, E., Zhu, Z., Fang, X., Nikolaeva, Y., Markham, E., Hirst, R.A., van Eeden, F.J.M., Malicki, J.J. (2021) Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor. Proceedings of the National Academy of Sciences of the United States of America. 118(28):
- Wang, X., Shan, X., Gregory-Evans, K., Gregory-Evans, C.Y. (2020) RNA-based therapies in animal models of Leber congenital amaurosis causing blindness. Precision clinical medicine. 3:113-126
- Kok, F.O., Shin, M., Ni, C., Gupta, A., Grosse, A.S., van Impel, A., Kirchmaier, B.C., Peterson-Maduro, J., Kourkoulis, G., Male, I., DeSantis, D.F., Sheppard-Tindell, S., Ebarasi, L., Betsholtz, C., Schulte-Merker, S., Wolfe, S.A., Lawson, N.D. (2015) Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish. Developmental Cell. 32(1):97-108
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