Genomic Feature
hu4581
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 20: 13447248 (GRCz11) (1) Details
- Nucleotide change
- A/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- in Acceptor Splice Site of Intron 10 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
TGCAGTTTAAAACCCACAAAAACCAAGGTTCTGATTCTTTTAAATGGACTAAACTCATACTAAAATGTTGTTTTAGCTACTTGTAATCTGAAACACTCTAATAAGAAATATTGTCTTTTTCTTTGATTAGGAACATTCTTTTCGAAAAGAGGATAGCACAGATCTTTCAATGGTTGCATTTGCCTGAAGGAGAAAGGTAATATTTATTTATTTATTTATTTATTTATTTATTTACTTGTTTATTTATTTATTTGTTTATATATTTATTTATGTATCGATATGTTTATTTATTTATTATTTGTTTTTTTTGTTTGTTTGTTCTCCCTCAACCTTTAAAAGTAGTAACCTTCAATTGTTGCCTTCAGTCTGTTTCAACATTTATGAATACATAAAATACTGCGTTATTATATAAATTCTTAGTGATGTTAAATAATATTTTTTTGACAGGAAGAAAAAAAAAAAAGATGTTGGCATTTTGAGATCAGTGTGTCTTTTGTTTC
A/T GGCCAGACTTTTACACCTTGTACTTCGAAGAGCCAGATGCATCAGGACACAAATATGGACCAATGAGTACCCAGGTAAACTAAAAAAGGAAAATAATTGTTAAACTTAAATATTTGCTTAGTTAGGGGAAAATTTCTGATTTAGTACATAGAATATTAAATGAAGACACCATTATAATTATTACACTTCATTTTTTTTTCTGTTGGCTCAAACTAATAGATTTATCATGAGCTGAAACAATACAGTTCTTGAGTTGTTTTGGGGATAACCTAATTGTTTAATATGATCCACTTAAATTTGTAGAAACAATTAAGTTAACTTAATCGATTTGTGTTGTGTAGAAACAGCATGAATCATTTGTGTGGATATATATATATACAACTGAAAGCTGAATAAATCCACTGATGTGTGGTTAGTTCGAACAGGATAATATTTGACACAAAAAAATCAGGAATCTGAGGGGTGCAAAAAAATTGAAATATATTTTCAATGTAATGCAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| enpp1hu4581/hu4581 | Homozygous | ♀+/- ♂+/- | 9 figures  from 3 publications | 2 figures from Apschner et al., 2014 | |
| enpp1hu4581/hu4581; enpp1sa156/sa156 | Complex | Fig. 3 from Huitema et al., 2012 | |||
| enpp1hu4581/hu4581; gl24Tg; zf336Tg | Complex | ||||
| enpp1hu4581/hu4581; hu4008Tg | Complex | Fig. 2 from Apschner et al., 2014 | Fig. 2 from Apschner et al., 2014 | ||
| enpp1hu4581/hu4581; hu5910Tg | Complex | Fig. 2 from Apschner et al., 2014 | Fig. 2 from Apschner et al., 2014 | ||
| enpp1hu4581/hu4581; hu7050Tg | Complex | Fig. 2 from Apschner et al., 2014 | Fig. 2 from Apschner et al., 2014 | ||
| enpp1hu4581/hu4581; hu8811Tg; hu9313Tg | Complex | Fig. 5 from Apschner et al., 2014 | |||
| enpp1hu4581/hu4581; hu8811Tg; hu9381Tg | Complex | Fig. 5 from Apschner et al., 2014 | |||
| enpp1hu4581/hu4581; hu8811Tg; nksagff214aGt | Complex | Fig. 5 from Apschner et al., 2014 | |||
| enpp1hu4581/hu4581; hu8811Tg; s848Tg | Complex | Fig. 5 from Apschner et al., 2014 |
1 - 10 of 12
Show
Supplemental Information
- Genotyping protocol
- None
- Mackay, E.W., Apschner, A., Schulte-Merker, S. (2015) Vitamin K reduces hypermineralisation in zebrafish models of PXE and GACI. Development (Cambridge, England). 142:1095-101
- Apschner, A. (2014) Putting crystals in place - the regulation of biomineralization in zebrafish. Ph.D. Thesis.
- Apschner, A., Huitema, L.F., Ponsioen, B., Peterson-Maduro, J., Schulte-Merker, S. (2014) Pathological mineralization in a zebrafish enpp1 mutant exhibits features of Generalized Arterial Calcification of Infancy (GACI) and Pseudoxanthoma Elasticum (PXE). Disease models & mechanisms. 7(7):811-22
- Huitema, L.F., Apschner, A., Logister, I., Spoorendonk, K.M., Bussmann, J., Hammond, C.L., and Schulte-Merker, S. (2012) Entpd5 is essential for skeletal mineralization and regulates phosphate homeostasis in zebrafish. Proceedings of the National Academy of Sciences of the United States of America. 109(52):21372-21377
1 - 4 of 4
Show