Genomic Feature
w60
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 9: 6321173 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A at position 1283 in RefSeq:NM_173242 in Exon 9 (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Arg>His at position 233 (1)
- Flanking Sequence
-
ACATGCCAATATTGGGTCACAGTCATAGCGCCACCTGCTGACAGAAGGATTTTTGGCATAAATCTATGATTTTTCTCTGTTTTATATATATATATATATATATATATATATATATATATATATATATATATATATGCAAGGTCCCTTTCATCGCTGCTTGCAGCTTTAAAAAAAAAAAACTCTTCAGCTTTAAATTTCTCATTTAGTTTTTTTTATTTTATTCTGTGATTTAGATTAGTTGTAATTCATATTATATGCTTTTAAAACTGCTCTTTAATATAACTTTAGTTAAGACTAAGCAATGATATGACGTATACTGGACAGTCTCATGTTTTACCAAATGCAATATTTGTGTTCAAAATGATCCATAGTGGGTTGTGTATCGAATATATTTCTATGATTTTGCATTCATATAGACCCAGAGGTGCACCCCCAAAATGAGGACTACTGGGGTCACGTGAATCCAATTGGTCCCCGGGCCTGTTATGATGAAGGAAAGC
G/A TGTTGCTGAGACTATGTGTTATGCCTACATGAAACAGGTAAGAGTGAAAATCACCCATGAACATATTGATGCATTTCACTGTGCAGCTGTTGGATTTTTGAACGGTGTAGTAAGGTTCATACATGGGAGCTCAAGGCCCGAACCCAATTCTATTTTTTACCCCTACCCCATGTCCCTTAAAAAAGAGTGTGAAGGCAAAGGGCTTCAAATTTACTCCTAAAAAATGGGACACCACTACAAAAGCCACAGACATCATCTTATGCCGTTGCGAGCTCTTACATCATACGAGATTGACAATGGTGCCTGCTGTAGTTATTTCAGTTGTGTGGCTTACAGTTATTTTTTGGTATTTTTCTTTAGGAAATTGCAGAAGGCTACGATATCATGTTATCATAACAATAAAATGTGACAATAAGCATGTAACTGTATTGTGTATATACAGTGGCCATATTAATCTATGTAAACACATTAAAACAATGTTAATTAAGGGCTGTGTGCTC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| uxs1w60/w60 | Homozygous | ♀+/- ♂+/- | 3 figures  from 2 publications | ||
| uxs1w60/+; uxs1hi3357Tg/+ | Complex | Fig. 1 from Eames et al., 2010 | |||
| fam20bb1127/b1127; uxs1w60/w60 (AB) | Complex | Fig. 7 from Eames et al., 2011 | |||
| uxs1w60/w60; xylt1b1128/b1128 (AB) | Complex | Fig. 7 from Eames et al., 2011 |
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Supplemental Information
- Genotyping protocol
- None
- 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
- Eames, B.F., Singer, A., Smith, G.A., Wood, Z.A., Yan, Y.L., He, X., Polizzi, S.J., Catchen, J.M., Rodriguez-Mari, A., Linbo, T., Raible, D.W., and Postlethwait, J.H. (2010) UDP xylose synthase 1 is required for morphogenesis and histogenesis of the craniofacial skeleton. Developmental Biology. 341(2):400-415
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