Genomic Feature
b1127
- ID
- ZDB-ALT-080318-3
- Name
- b1127
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (2)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Postlethwait Zebrafish Genetics Laboratory
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 20: 15864004 (GRCz11) (1) Details
- Nucleotide change
- A/G
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>C at position 991 in Exon 6 (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Cys>Arg at position 331 (1)
- Flanking Sequence
-
ATTTATTCATATATTCTGAGGCAACATAAAAAAGTTATATACGTACTAGAGCTTGTTTGTCGATCCATCCAAAGAAAATAATGCTTTCGTCCACAAACTTTCTTTCTAAACCCATCGGTCAACCACAAACTGATTGTTATATTTTAATGTTAACATATATCCAATTAGAAACAATTCAGATCAAGTTACTTGGAACAACCCACATATACGCGCGTTTCAGTGGAAACTCTGACTCACACAAGGCATTGCAAAAACACACCGCTTTTTTATGGGTTGCATGTGCTATGTGATTGTGTTGTGTACTTGAGTCAACAGGAACTAGAGAGAGTGTGTCTGGTTTTAAAAGAACAGACCAGGAAGAGTTTGTCACTAGTCAACAGATAAATTTAGCCAGAGGTTAGTGACTGTCTGAGGCTTATCGAAGTATAGAAACTCAATAGCGTGGGTTGCAAAAGGAAGTTGAGGAGCACTGAGTGTTTGTGTAAGAACTCACATGCAGC
A/G CTGATAGAGCGGGGCGAGAATACTCCTCTCATCCAAAGACGGGTTCCCAAAACTGCAAAAGAAAGCATGACAATTCAAACCAAAACCGTGGAGTTTTTGTTTAGGTTTTGAGACTTTTATTTAAAAAGAACAAAAAAGGAAGAAAAAAAGTTTCTTCATATATTAAAAATGCACGGTTCCACAAAATCCATTCAAGTTGTCCCAACACAAATAGATTAAGTTAACGTAACACTTTGGTGGTTAAAACAGAAAACAATGAAGTTGTTCTAAAGAAATTTTCAAGAAATGTGTTTCAACTCATTTTAAATAAGTAGTCTGAACAATCAGCATAACTTTTTTGAGTGTACAAAGTACGTTCTATTAGATTCTAGTTGGCCAATCAGCACTTCAAATGCACACAAGACAACCAATGAGGATCATCTTAGAGGTCTCAATTTGCATATTTTCCATCCCAAATATGGGTTTGAATTTATAATATATATAGATAAATATATATAGTA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| fam20bb1127/b1127 (AB) | Homozygous | ♀+/- ♂+/- | 8 figures  from Eames et al., 2011 | 2 figures from Eames et al., 2011 | |
| fam20bb1127/b1127 (TU) | Homozygous | ♀+/- ♂+/- | Fig. 2 from Miller et al., 2007 | ||
| fam20bb1127/b1127; b1212Tg (AB) | Complex | Fig. 9 from Eames et al., 2011 | |||
| fam20bb1127/b1127; ihhahu2131/hu2131 (AB) | Complex | Fig. 12 from Eames et al., 2011 | |||
| fam20bb1127/b1127; uxs1w60/w60 (AB) | Complex | Fig. 7 from Eames et al., 2011 | |||
| fam20bb1127/b1127; xylt1b1128/b1128 (AB) | Complex | 2 figures from Eames et al., 2011 |
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Supplemental Information
- Genotyping protocol
- None
- Koosha, E., Brenna, C.T.A., Ashique, A.M., Jain, N., Ovens, K., Koike, T., Kitagawa, H., Eames, B.F. (2023) Proteoglycan inhibition of canonical BMP-dependent cartilage maturation delays endochondral ossification. Development (Cambridge, England). 151(2):
- Hackett, M.J., George, G.N., Pickering, I.J., Eames, B.F. (2016) Chemical Biology in the Embryo: In Situ Imaging of Sulfur Biochemistry in Normal and Proteoglycan-Deficient Cartilage Matrix. Biochemistry. 55(17):2441-51
- Eames, B.F., Yan, Y.L., Swartz, M.E., Levic, D.S., Knapik, E.W., Postlethwait, J.H., and Kimmel, C.B. (2011) Mutations in fam20b and xylt1 Reveal That Cartilage Matrix Controls Timing of Endochondral Ossification by Inhibiting Chondrocyte Maturation. PLoS Genetics. 7(8):e1002246
- Miller, M.R., Atwood, T.S., Eames, B.F., Eberhart, J.K., Yan, Y.L., Postlethwait, J.H., and Johnson, E.A. (2007) RAD marker microarrays enable rapid mapping of zebrafish mutations. Genome biology. 8(6):R105
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