Genomic Feature
s617
- ID
- ZDB-ALT-070308-1
- Name
- s617
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Stainier Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 21: 2521818 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A at position 1575 (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Gly>Asp at position 497 (1)
- Flanking Sequence
-
AATCTAATCCAAAAGATTGCCAAGCCCCTTGATTTAAGTAAGGTAATTAAATCTCAACTTTCAGTCAAGCTTTGTCTAAACGTAATGTGACAACACACCAACATATATTCATGGAAATTCAGCTTTTCAGTCAGTGAATTTGGCTTAAAGTGTGAACCCTGCTTTCTGTTCTCCACAGAGAGGTGCTGGATTCCTGAGCAATGCTGAGGTGATGGCGTTAGTGGAGTCCAGAGGCATTCTGGGATACCGTCTGGAAGCAGTGATGGAGAGTCCAGAGCGAGGTGTGGCCATACGCAGGGAAATGCTCTCTGGCAAACTCCCGGACTCTTCAGCTCTTGAGAATCTGCCTTACAAACACTACGATTACTCAAAGGTACTGTTTACGGCTGGGCTCGTCAGTGGATTTGTGTGAGGATGTGGAGCTTTAATGCGGTTTTCTTGTTCTCAGGTGGTTGGGAGCAACTGTGAGAATGTGATTGGCTATGTGCCTGTGCCAGTGG
G/A TGTGGCCGGACCGCTTCTATTGGACGGGAAAGAATTCCATGTTCCTATGGCAACAACTGAAGGCTGTTTAGTGGCCAGCACTAACCGAGGATGCAGAGCCGTCACAGTGAGTCGAACATTTGATTATTAATCTGCTCTCAATTTAGTTTGTGTGTACATTCATTTTCATTCCTTTATCTGTTCTCGGTTTAGTTTGTTATTGATTTGTTCTCAGTTTAGTTCATTCCTATACGTTTTGTATTCCGGTGTTGATTAAATATTGAATGTCTTTTGTTATTTTAATTCGTTTTCTTATTTTATTTGTACATTTATATTTTGTTTAATTTTATATTTAGCAAATTAATTTATAATTTTCTTGGCACTTTTGTTGTGCATTTTGAATTTTTTCCATGTTTTTTTTTTCATTGTTTTATTTTTCATTTATTCTTTTGTTCAGTGTTTTTGGATTTTTCATTTTGGTTACTGTTTGTTATTAATTTATTTGTTTACTTGTTCTGTTT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| hmgcrbs617/s617 | Homozygous | ♀+/- ♂+/- | 3 figures from Signore et al., 2016 | Fig. 3 from Signore et al., 2016 | |
| hmgcrbs617/s617 | Homozygous | Unknown | 2 figures from D'Amico et al., 2007 | ||
| hmgcrbs617/+ | Heterozygous | Unknown | 2 figures from Signore et al., 2016 | Fig. 3 from Signore et al., 2016 | |
| hmgcrbs617/s617; ne2067Tg | Complex | Fig. 1 from D'Amico et al., 2007 | |||
| hmgcrbs617/s617; rw0Tg | Complex | 2 figures  from Mapp et al., 2011 | Fig. 2 from Mapp et al., 2011 | ||
| hmgcrbs617/s617; s883Tg | Complex | ||||
| hmgcrbs617/s617; twu34Tg | Complex | 2 figures from D'Amico et al., 2007 | |||
| hmgcrbs617/+; rw0Tg | Complex | Fig. S3 from Mapp et al., 2011 | |||
| hmgcrbs617/s617; rw0Tg + MO1-prickle1b + MO2-prickle1b | Complex | Fig. S3 from Mapp et al., 2011 | |||
| hmgcrbs617/+; rw0Tg + MO1-prickle1b + MO2-prickle1b | Complex | Fig. S3 from Mapp et al., 2011 |
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Supplemental Information
- Genotyping protocol
- None
- Chen, J.W., Niu, X., King, M.J., Noedl, M.T., Tabin, C.J., Galloway, J.L. (2020) The mevalonate pathway is a critical regulator of tendon cell specification. Development (Cambridge, England). 147(12):
- Signore, I.A., Jerez, C., Figueroa, D., Suazo, J., Marcelain, K., Cerda, O., Flores, A.C. (2016) Inhibition of the 3-hydroxy-3-methyl-glutaryl-CoA reductase induces orofacial defects in zebrafish. Birth defects research. Part A, Clinical and molecular teratology. 106(10):814-830
- Mapp, O.M., Walsh, G.S., Moens, C.B., Tada, M., and Prince, V.E. (2011) Zebrafish Prickle1b mediates facial branchiomotor neuron migration via a farnesylation-dependent nuclear activity. Development (Cambridge, England). 138(10):2121-2132
- D'Amico, L., Scott, I.C., Jungblut, B., and Stainier, D.Y. (2007) A Mutation in Zebrafish hmgcr1b Reveals a Role for Isoprenoids in Vertebrate Heart-Tube Formation. Current biology : CB. 17(3):252-259
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