Genomic Feature
hu4800
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 5: 25781558 (GRCz11) (1) Details
- Nucleotide change
- T/A
- Variant Notes
-
GTG>GAG, at 1277bp from the predicted start ATG
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A at position 1277 (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Val>Glu at position 426 (1)
- Flanking Sequence
-
TAGCAGTATAACCAGACTCAGCAACTGGTGTGTGTGTCTGTGCTGCTTGTAAAGTCTATGTAATCAGTTCATAATGATCCTCCAGCTGTGTGTGAAACAGGAACAGGTGTGTGGGTTTGGTGCGTCACAGGATTTATAGTTCTTTTGGTGGCAGATTTGCAGTTCTCCAGCGATTTGTATGGACTAGGTCACTGGTGATTGTGACAATAACAAACAGCAAATGTCAATTTTTGAGTTTGTGTATTTTATGTGTTTGAGGTAAAACTTGGGCTAATTTGCATTTAAATAAACAAAAACAAAAATAAACAAAAGTTTTTTTTTCTTCTCACCTAAAATGTTGTGTTTACAGTGTGGCGTAAGGATCTGTGAGTACATGAGATGAAAAAGACAAAAAAGAAAACCCTTTTTAAACCTTCACTGTTTTTTGCCATAAGGTTACCCTACTACAGGCTTCCAAGTGGATGCAGTGGATAAAGTAGTTCTGAACCTGCAAGATGACG
T/A GAGCAGCTGGAATCCGGGTGATCGGATTGTGGTGGCTAGCACAGATTACTCCATGTACCAGGCAGAAGAGTTCACCCTGCTCCCCTGTCCAAACTGTAACAGAAAGCAAGTTCAAATTCAAGGTGAGATGGCTTTGGTTTGTTGTGTTAATAATTTACAGCATCTCTGCTCTCAATCTTGCTGTCAATTTTCATGAAGCCAAGTTGACAGTGTCTATGAGTTTGCAACAGGAAAAGGGTGAGGACTGTTTACCAGAGTCCCATAAACAAACTTGTCATTTTTGACCATAGGCCAGCAGTGGCTGTATAGATAATTCTTCCATCATGTTCTCCACCCTGTTCAAAATTCAGATTTTTTGTCACTAATTGCTTTACAGTGATAACGTCCCAACTGCTCTTTAGGGTGTACTGGAATTTGTACACATACATGTTTGTGTATGTGTTTTCGTTAGATAGAAAGAAATCTCTTATGCTGATCAAGGCAGCATATAATTAATTAAA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| cemip2hu4800/hu4800 (AB/TL) | Homozygous | ♀+/- ♂+/- | 3 figures  from Smith et al., 2011 | 2 figures from Smith et al., 2011 | |
| cemip2hu4800/hu4800; la116Tg (AB/TL) | Complex | Fig. 1 from Smith et al., 2011 | |||
| cemip2hu4800/+; cemip2hu5935/+ (AB/TL) | Complex | Fig. 1 from Smith et al., 2011 | Fig. 1 from Smith et al., 2011 | ||
| cemip2hu4800/hu4800; la116Tg + MO4-tp53 (AB/TL) | Complex | Fig. 4 from Smith et al., 2011 | Fig. 4 from Smith et al., 2011 | ||
| cemip2hu4800/hu4800 + MO4-tp53 (AB/TL) | Complex | Fig. 4 from Smith et al., 2011 | |||
| cemip2hu4800/hu4800; la116Tg + MO3-bmp4 + MO4-tp53 (AB/TL) | Complex | Fig. 4 from Smith et al., 2011 | Fig. 4 from Smith et al., 2011 | ||
| cemip2hu4800/hu4800 + MO3-bmp4 + MO4-tp53 (AB/TL) | Complex | Fig. 4 from Smith et al., 2011 |
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Supplemental Information
- Genotyping protocol
- None
- De Angelis, J.E., Lagendijk, A.K., Chen, H., Tromp, A., Bower, N.I., Tunny, K.A., Brooks, A.J., Bakkers, J., Francois, M., Yap, A.S., Simons, C., Wicking, C., Hogan, B.M., Smith, K.A. (2017) Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover. Developmental Cell. 40:123-136
- Smith, K.A., Lagendijk, A.K., Courtney, A.D., Chen, H., Paterson, S., Hogan, B.M., Wicking, C., and Bakkers, J. (2011) Transmembrane protein 2 (Tmem2) is required to regionally restrict atrioventricular canal boundary and endocardial cushion development. Development (Cambridge, England). 138(19):4193-4198
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