Genomic Feature
s231
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 9: 34416576 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T at position 3600 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Gln>Stop (1)
- Flanking Sequence
-
TTCTTTCAGCATAAACATTCCTTGCAGTAACTAATTTTAGTCATTGTGTATAGGTTCACAGGCGATGCCTCCACCTCGTAAACTGCCACAGCGGTCTTGGGCAGCCTCTATTCCCACCATCCTCACCCACAGCAAGCTACATGTGTTGCTTCTGCCTTCACCCATGCCATGCCCGGTCCCAGGGCTGGCAGGCAGCTACCTGTGCTCACCTCTGGAGCGCTTCCTGGGCTCAGTCATCATGAGACGACACCTGCAGAGAATCATCCAATTAGAACCCAACGTGAGTCAGAAGCTGTAAACATTTCGTATGGTTACTTACCTTCATATACCTGTATCACACTTTGACTACCTTCTATTCACAGCTCACTATTGTGAACTCAAATGAACCAGGCGTCATCATGTTTAAAACAGAAGTGCTTAAATGCAGAGTGGCTCTCAACCCTAAATCCTACCAGACTCTCCAGCTGAAAGTCACACCAGAAAACACGGGACCCTGGTCA
C/T AGGAGGAGCTGCAGGTCTTGGAGAAGTTCTTTGAGACCAGGGTAGGAAATCAGCTCAACAACTGTCATGCCTTTTGTTCAGTTTGTGTTTTGGAAATTTGTAGTAGATAGATTTGTATTCTGTTTAAGAGCCCTTATTGGTCCAATGCTTCACATACAGTGAAGTTCTTTTTCAATCTTTACCTAAACAGTGGTATACTGTTATCAAATATTGTGACTGTACCCAGCTGAATATATAAATGTCTGCTGCATGCTTTCCTCTCAGCAACAAAAACACACAAGAAAAATGACATTGCTGAGAAAACAGAAGTTTAGCATCATCTAATCATAGAGTTATGGATACATGTTTGGACTCAATTATGCTTGCCTTGTTTACTGTTGGTTGCTAATTTACCAATACTACAGCTGTGTGTTCTAACAACCTGATGGAAATGTTTATTCGCATTTGAGATTTTTTTTTGTAAACTTTTTTTTTTTGTAAGATTTTTTCACGTTGGGATG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| med14s231/s231 | Homozygous | ♀+/- ♂+/- | 3 figures  from 2 publications | 4 figures from 2 publications | |
| med14s231/s231 (TL) | Homozygous | ♀+/- ♂+/- | Fig. S2 from Jin et al., 2007 | ||
| med14s231/s231 (WIK) | Homozygous | ♀+/- ♂+/- | |||
| med14s231 | Unknown | Unknown | |||
| med14s231/s231; ir937Tg | Complex | 2 figures from Lou et al., 2015 | |||
| med14s231/s231; s843Tg | Complex | 2 figures from Jin et al., 2007 | |||
| med14s231/s231; smarca4as481/s481 | Complex | Fig. 1 from Lou et al., 2015 | 3 figures from Lou et al., 2015 | ||
| med14s231/s231; smarca4as481/s481; ir937Tg | Complex | 2 figures from Lou et al., 2015 | |||
| med14s231/s231; smarca4as481/+ | Complex | Fig. 1 from Lou et al., 2015 | |||
| med14s231/+; smarca4as481/s481 | Complex | Fig. 1 from Lou et al., 2015 |
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Supplemental Information
- Genotyping protocol
- None
- Burrows, J.T., Pearson, B.J., Scott, I.C. (2015) An In Vivo Requirement for the Mediator Subunit Med14 in the Maintenance of Stem Cell Populations. Stem Cell Reports. 4(4):670-84
- Lou, X., Burrows, J.T., Scott, I.C. (2015) Med14 cooperates with brg1 in the differentiation of skeletogenic neural crest. BMC Developmental Biology. 15:41
- Jin, S.W., Herzog, W., Santoro, M.M., Mitchell, T.S., Frantsve, J., Jungblut, B., Beis, D., Scott, I.C., D'Amico, L.A., Ober, E.A., Verkade, H., Field, H.A., Chi, N.C., Wehman, A.M., Baier, H., and Stainier, D.Y. (2007) A transgene-assisted genetic screen identifies essential regulators of vascular development in vertebrate embryos. Developmental Biology. 307(1):29-42
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