Genomic Feature
b1312
- ID
- ZDB-ALT-190712-1
- Name
- b1312
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Westerfield Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 7: 29034257 - 29034269 (GRCz11) (1) Details
- Nucleotide change
- ACCTGCAGCGAGG/-
- Variant Notes
-
13 bp deletion in exon 12, causes frameshift followed by premature stop.
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 13 bp deleted (1)
- Transcript Consequence
- None
- Protein Consequence
- None
- Flanking Sequence
-
AATGTATATACTGTAGTTTTTTATTATTATATTATATTTTATTTTATTATGTTTTAAAATATTATATTATATTTTATAATATTACATTATATTTTATAACATTATGTTATATTGTATTGTATTCTAATATATTTTATATTATATTATTTTATATTATTGGATTATATTATATGTTATTATATTATATTATATGTTATTATATTATATTATATTATTGTATTATATTATATGTTATTATATTATATTATATGTTATTATATTATATTATATTATTTTATATTTTGTTATATTATATTTTTATCTATATTGGTCAAATATGGAAATACTCATAAGTTGCCAATCTAGTAATAAATAAATAAACGAACAAACATCAAATAATGTGAACTGTTGGAAAATTCATATCTAGAAATGTTCTGTAAATTTTTTCTTCTATTTTCCTGTGTCCAGGGAGGTGCTAGTATGCAAGTTGCGGGCGGGATATCCCGTCAGTGCTCTGCAGG
ACCTGCAGCGAGG/- GGTCAGCAGTGCCGTCAGCCTGATGCAGAGCAGCCTGCAGCAGGGCAAGATAACGAACCTCACACAAACCCTCGGCATTGAGAGCCAGGAGCAAGCCAAGAGCGCATACTTGGTGAGCATCCAGTCTGCCGACCTGTCTCATCTTATACTTTTATACTGTCAGTTTGATGTGTTTTCTGTTGTAGTTTTTGGAGTTGCTTTAATCGGTTTCCTTTGATCGTCTTCACAAATGTTTCTTGTTTGCTCAGTCTGAACGGACCCTTTTTACAAGACTGTTATGATGCGTTTCATCCGCATCTTAAATCCTTGAAAGCTTTTATTATTTAGAATTTTTTTTTTAAATGTATGAACATTTAGGTGTGTGTATTATATAATCTTGCATCAAATTACAACAAATGAATTACCGCTCATGCGAAGTGTTTCTAATGCAGCTGTCTATGGGGCAGGACAGTAAATTTGATGTTATTCTCTCTTCTGGCTGCTGTTATCAGTCTCACACT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| cog4b1312/b1312 | Homozygous | ♀+/- ♂+/- | 11 figures  from 2 publications | Fig. S14 from Ferreira et al., 2018 | |
| cog4b1311/+; cog4b1312/+ | Complex | Fig. 7 from Ferreira et al., 2018 | Fig. 7 from Ferreira et al., 2018 | ||
| cog4b1312/b1312; vu234Tg | Complex | Fig. S14 from Ferreira et al., 2018 |
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Supplemental Information
- Genotyping protocol
- None
- Clément, A., Blanco-Sánchez, B., Peirce, J.L., Westerfield, M. (2018) Cog4 is required for protrusion and extension of the epithelium in the developing semicircular canals. Mechanisms of Development. 155:1-7
- Ferreira, C.R., Xia, Z.J., Clément, A., Parry, D.A., Davids, M., Taylan, F., Sharma, P., Turgeon, C.T., Blanco-Sánchez, B., Ng, B.G., Logan, C.V., Wolfe, L.A., Solomon, B.D., Cho, M.T., Douglas, G., Carvalho, D.R., Bratke, H., Haug, M.G., Phillips, J.B., Wegner, J., Tiemeyer, M., Aoki, K., Undiagnosed Diseases Network, Scottish Genome Partnership, Nordgren, A., Hammarsjö, A., Duker, A.L., Rohena, L., Hove, H.B., Ek, J., Adams, D., Tifft, C.J., Onyekweli, T., Weixel, T., Macnamara, E., Radtke, K., Powis, Z., Earl, D., Gabriel, M., Russi, A.H.S., Brick, L., Kozenko, M., Tham, E., Raymond, K.M., Phillips, J.A., Tiller, G.E., Wilson, W.G., Hamid, R., Malicdan, M.C.V., Nishimura, G., Grigelioniene, G., Jackson, A., Westerfield, M., Bober, M.B., Gahl, W.A., Freeze, H.H. (2018) A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American journal of human genetics. 103:553-567
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