Genomic Feature
b1115
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 22: 4411383 (GRCz11) (1) Details
- Nucleotide change
- A/G
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>C in Exon 16 (1)
- Transcript Consequence
- Nonsynonymous (1)
- Protein Consequence
- Amino Acid Substitution: Cys>Gly (1)
- Flanking Sequence
-
TCAATTCATCTGGATTCTAAATCCAATGCTGTTGTACAATTAATCAGAATAACAAAATCACTGCGATAAATGTTAACGAACATCGTAATTGTGCATAGCTGCAGTTCATTGTGCTGGTGTGTAGCATACAAGACAATATGTCATTGAAGCAACTATAGCTAAAACACATCTAGATCGCTAGAGAAATCAGCTTTACTTGTAAATTCGCAATTCAGAAAAAAAAAACAACTACAACGGACAGAAGTCGAGTGGCTAGACAGTCAGATCACAAATCCTGTAGCGCGGCTGAATCAACATTTTTCGATCCATGCTACAACAACCTGACGTATTTGTAAAATAATTTTAAAAACACGAAATGCATTTTGATTCGTGGAATTGTAAGGCGCGTTTTGGACATCGTCAACACCGGCCGCTGCTGTATCCGGGGAAGAGCTGGGTGAGGATGGCTTGGAGGGGTTTGTTGACCGCCATTTGGTAGTTTTTGCCCAGGTCGTGTCGGC
A/G GGCCGGACAGGTGTAGACCTTGGCTTTGAAAGATCTCTGAAGGCATTCCTGTGGAGAACAGAGGATGAATTTAAATGTACTGCCGGCATAAAGAAAATCCACTCTAAAATGTCAAGCTAAATAAATAGCTACTCTCGACACATGAAAGTGTAAACCCTGCAGCTCAAAACAAATGTGAAAAGTTATTGCGGATCATATTTAACACAACATTTATTACTAATTTGTGGTAATTTTGCTCCCATGGATAACTGAATATTATTCAGATGATGTCATTATGCTGCTGTGCCGTCAGCCAATCATTGCATTGCTGATCATGATTTCGAGAATCAATAGATCTGTCCTTCACAACACACGCAGCGATCTCAGATGTTCATCCAGACATTTGTATCTGATTTATGAACTTGTTTGAAGAACCAAATTAGCCACAGATCAGTTATCAAGATTAACAGATCCAGGATCTGCCAACTCATCTTGGATCATTTAAGCGAGGTACGAAGAAC - Additional Sequence
- None
Fish
Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
---|---|---|---|---|---|
uhrf1b1115/b1115 | Homozygous | ♀+/- ♂+/- | 5 figures ![]() | ||
uhrf1b1115/+ (AB) | Heterozygous | ♀+/- ♂+/- | |||
uhrf1b1115/b1115; w37Tg | Complex | 3 figures ![]() | |||
uhrf1b1115/+; uhrf1hi272Tg/+ | Complex | Fig. 1 ![]() | |||
dnmt1s904/s904; uhrf1b1115/b1115 | Complex | Fig. 7 from Ganz et al., 2019 |
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Supplemental Information
- Genotyping protocol
- None
- Ganz, J., Melancon, E., Wilson, C., Amores, A., Batzel, P., Strader, M., Braasch, I., Diba, P., Kuhlman, J.A., Postlethwait, J.H., Eisen, J.S. (2019) Epigenetic factors Dnmt1 and Uhrf1 coordinate intestinal development. Developmental Biology. 455:473-484
- Kuhlman, J., and Eisen, J.S. (2007) Genetic screen for mutations affecting development and function of the enteric nervous system. Developmental Dynamics : an official publication of the American Association of Anatomists. 236(1):118-127
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