Genomic Feature
umd2
- ID
- ZDB-ALT-191120-1
- Name
- umd2
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Zaghloul Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 13: 9373985 - 9373991 (GRCz11) (1) Details
- Nucleotide change
- AGATGGC/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 7 bp deleted in Exon 4 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Ser>Stop at position 364 (1)
- Flanking Sequence
-
GGAGAGGAGCAGACCGCTGCTCAGCGGCTTAGTGAGGGGATGCATGCTCGGCCTTTATTAGAGCTTAGAGAAGAGGACATTAGTGTGGCTGTTAGCAACAGTAGTGCCATTTCTTCTCCATCTGAACCAGGATCAAATCATCAGAACACTCAGAAAATCCAGACAAGTCCCTCCAATCTTCAAGCAGACCGAGAGCAGCCACAAGGGGGCTCACTGTCGTTGACATCTTCATTTCAGAAGGCTACAGTTTCGACAGCTCGCTCAGATGTGTCAAATATAACGTTTCGTGATTCACAGATGGATACACACCAAACAGCAGATCATCTCCACGATCAACTTCTGACTGCAAGTGGCTCCTTGTCTGCACCAGCAAGTAGGCTCCATGGTGGGAACAAAAGTTCTGACAGTGCACAATCTTTCACCATAGCTGGTGAAGATCTGATACATGTTCCAGGTCTGCAGAGAGCTCTTTTGAGCTCTGGTGGTCGTTTAATCGGAGC
AGATGGC/- TCATTCTTGAGCTCTCAGCCTGTGTTTCAGTCAACACCAGCAGTACCTCCCACGAGACCCCTACCTGCATTGACTAAACCATCTCTCATACACTCCAAACAAAAGGCTGTTGCCTCTGCAGCTACGTTACCTCAAAGCAACCAGTCCAGAACTGGCTTGATGCCATTATTGGATCTAAGCGACCAACATTCCTCTTCTATGTACTCTCAAACAACATCTAGCAAACCACCAAAGACTGAGCAAACAGTCTCGCATGCCCATTCTGTCTCAAACGAACACATTTCTCCGGCCGTTTTAAATCCAACAGCCGCTGACACATCTCGCTCGGACACTCAGCTTTTTTACTCCAGTACAGAGAAGAAAGATCAAGTTTCTCATTTGGCTCTTGGGAGAGTACAGTCTCTTCCCAGTCTCAGCTACTTACAAAAAGTAGATGCCTGGAAAGCCAATCAGAGTTCGAGCAGATCGTTTTGTGATAATTTGGCCCTGCAAGGAGTTGA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| alms1umd2/umd2 | Homozygous | ♀+/- ♂+/- | 8 figures  from 2 publications | ||
| alms1umd2/umd2 | Homozygous | Unknown | 3 figures from Parkinson et al., 2021 | ||
| alms1umd2/umd2 | Homozygous | ♀-/- ♂+/- | Fig. 4 from Parkinson et al., 2021 | ||
| alms1umd2/+ (AB) | Heterozygous | Unknown | |||
| alms1umd2/umd2; jh2Tg | Complex | Fig. 4 from Nesmith et al., 2019 |
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Supplemental Information
- Genotyping protocol
- None
- Parkinson, L., Stawicki, T.M. (2021) alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants. PLoS One. 16:e0246844
- Nesmith, J.E., Hostelley, T.L., Leitch, C.C., Matern, M.S., Sethna, S., McFarland, R., Lodh, S., Westlake, C.J., Hertzano, R., Ahmed, Z.M., Zaghloul, N.A. (2019) Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes. Human molecular genetics. 28:2212-2223
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