Genomic Feature
ua5022
- ID
- ZDB-ALT-191119-1
- Name
- ua5022
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Allison Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 11: 3271380 - 3271390 (GRCz11) (1) Details
- Nucleotide change
- ACCGGAGATCG/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 11 bp deleted (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
CGCGAGTCATTTTTAATAGATGAAAAATTTATTATATATTTTTTTTCTTATATATATATATTTTTTCTTATATATATATATATATTTTTTCTTATATATATATATTTTTTTCTTATATATATTTTTTTTTCTTATGTATATATACATTTTTTTATATATTTTTTTTTCTTATATATATATTTTTTTCTTATATATTTTTTTTTCTTATATATATATATATTTTTTTTTTCTTTTTATATATATATATATTTTTTTTATTTTTTTTATTTTTTTTCTTATATATATATATATTTTTTTTTTCTTCTTATATATATATATATTTTTTTTTTTTCTTATATATATATATATTTTTTTTTCTTATATATATTCTTATATAATCATTAAAAAATTGTATCTCTTCAGGCGGTTTAAGGAGTACCATCCACTGAGAGAAGAAAGCGAGGGCAGCGGTTTTGCTTCAGGAATAAGCGCAGTACCTTCGATGCTGTGGAGCTTTCTGA
ACCGGAGATCG/- ACTGCCGAGAGCCGTCCACTTCTGCTGGGACGCGTGGTGTGAAAACAGCCATAATGCATCACCTGTACAGTCTCTTGATAAGAAAATTTAACAAGCCTATTAACAAGAGGTCCTTATTGTACTGTAATAACAATGTCATGTGCAAAAATATCATATGCAGCATGAATCGAGTAATCCAAATAAAGTATGGTGGTTGCACATGTTGTAAAAACAGATACTTCTGCTTTATTTGGTCTACAGTCACACTACAAAAAATGCTTCATGTACTGTTTTTATAATTGCTTTAGTCCAAATATCTAAAAAATCTTAAATCTAAAGCATTTTCATGCAAGGAAAAACTTTTTTTTCTGAAAACAAGCTAAATAATCTTTAATGTTTATTTTGCTCATTTTACTAATAATCTTGTGTATTTTTGACATTTGTTTATTTTTTTTCAGACAGACCTTTTTTTTTTGTCTAGAACAGAGATGCCCAAACTAGGGCCAAAGTTGGCCCATGGT - Additional Sequence
- None
Fish
Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
---|---|---|---|---|---|
pmelaua5022/ua5022 (AB) | Homozygous | ♀+/- ♂+/- | 4 figures ![]() | 3 figures ![]() | |
pmelaua5022/+ (AB) | Heterozygous | ♀+/- ♂+/- | 3 figures ![]() | 2 figures ![]() |
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Supplemental Information
- Genotyping protocol
- None
- Hodges, E.D., Chrystal, P.W., Footz, T., Doucette, L.P., Noel, N.C.L., Li, Z., Walter, M.A., Allison, W.T. (2023) Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma. International Journal of Molecular Sciences. 24(19):
- Lahola-Chomiak, A.A., Footz, T., Nguyen-Phuoc, K., Neil, G.J., Fan, B., Allen, K.F., Greenfield, D.S., Parrish, R.K., Linkroum, K., Pasquale, L.R., Leonhardt, R.M., Ritch, R., Javadiyan, S., Craig, J.E., Ted Allison, W., Lehmann, O.J., Walter, M.A., Wiggs, J.L. (2018) Non-Synonymous variants in Premelanosome Protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma. Human molecular genetics. 28(8):1298-1311
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