Genomic Feature
au10
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 1: 24076924 (GRCz11) (1) Details
- Nucleotide change
- A/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- A>T at position 301 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Lys>Stop at position 101 (1)
- Flanking Sequence
-
AGTCGCACTGTCTTGGATCCATCCGTTTCCTGGTCCAAACTTGACGTCTATCCGCTGCGGGCGCAAACTTCATCATCACTTGATCTTTTGTTTTTTTGTTTTTCTTTTCCTGGGAGTTGTGCCTCTGGCTTCACCGGTAAGCATTGGATCCATCGGCGTACTGCGAAACTCCGGTCTACAGTCCGGATCTGTGCCCAAACATGATTGCAACGCAAGCAAAGCTGGTTTACCAGCTTAATAAATATTACAACGAAAGATGCCAGGCGCGCAAAGCGGCCATCGCCAAGACCATACGAGAGGTGTGTAAGGTGGTGTCGGATGTGCTGAAGGAGGTGGAGGTCCAAGAGCCCCGTTTCATCAGCTCCCTGAGCGAGATAGACGCGCGCTATGAGGGCATGGAGGTCATCGCACCCAACGAGTTTGAGGTCGTACTTTACCTGAACCAGATGGGGGTGTTCAACTTTGTAGACGATGGCTCTCTGCCGGGCTGCGCGGTGCTC
A/T AGCTCAGCGACGGCCGCAAGAGGAGCATGTCCCTGTGGGTGGAGTTCATCACCGCCTCCGGTTATCTATCGGCACGAAAGATTCGCTCCCGCTTTCAGACGCTGGTTGCCCAGGCCGTGGATAAATGCAGCTACCGGGACGTGGTTAAGATGGTGGCGGACACGAGCGAAGTGAAACTGCGCATTCGGGAGAGATACGTCGTGCAAATCACCCCGGCCTTCAAGTGCACGGGCATCTGGCCTAGGAGTGCCGCTCAGTGGCCCATGCCTCACATCCCGTGGCCCGGGCCGAACCGGGTGGCGGAGGTAAAAGCGGAGGGGTTTAACCTGCTCTCTAAAGAGTGCTACTCATTGACGGGCAAGCAGAGCTCGGCAGAAAGCGACGCCTGGGTCTTGCAGTTCGCCGAGGCCGAGAACAGGCTTCTGATGTCGGGCTGTAGGAAGAAATGCCTCTCTGTTCTAAAGACTCTCCGTGACCGACACCTCGAGCTGCCGGGACAG - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| mab21l2au10/au10 | Homozygous | ♀+/- ♂+/- | 3 figures  from 2 publications | ||
| mab21l2au10/au10 (AB) | Homozygous | ♀+/- ♂+/- | 6 figures from Gath et al., 2019 | 2 figures from Gath et al., 2019 | |
| mab21l2au10/au10 (AB/TU) | Homozygous | ♀+/- ♂+/- | Fig. 7 from Hartsock et al., 2014 | ||
| mab21l2au10/+ (AB) | Heterozygous | Unknown | |||
| mab21l2au10/au10; y1Tg | Complex | Fig. 8 from Hartsock et al., 2014 | Fig. 8 from Hartsock et al., 2014 |
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Supplemental Information
- Genotyping protocol
- None
- Gath, N., Gross, J.M. (2019) Zebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development. Developmental Dynamics : an official publication of the American Association of Anatomists. 248(7):514-529
- Sribudiani, Y., Chauhan, R.K., Alves, M.M., Petrova, L., Brosens, E., Harrison, C., Wabbersen, T., de Graaf, B.M., Rügenbrink, T., Burzynski, G., Brouwer, R.W.W., IJcken, W.F.J.V., Maas, S.M., de Klein, A., Osinga, J., Eggen, B.J.L., Burns, A.J., Brooks, A.S., Shepherd, I.T., Hofstra, R.M.W. (2018) Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease. Gastroenterology. 155(1):118-129.e6
- Hartsock, A., Lee, C., Arnold, V., Gross, J.M. (2014) In vivo analysis of Hyaloid vasculature morphogenesis in zebrafish: A role for the lens in maturation and maintenance of the Hyaloid. Developmental Biology. 394(2):327-39
- Lee, J., Cox, B.D., Daly, C.M., Lee, C., Nuckels, R.J., Tittle, R.K., Uribe, R.A., and Gross, J.M. (2012) An ENU Mutagenesis Screen in Zebrafish for Visual System Mutants Identifies a Novel Splice-Acceptor Site Mutation in patched2 that Results in Colobomas. Investigative ophthalmology & visual science. 53(13):8214-8221
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