Genomic Feature
j7e2
- ID
- ZDB-ALT-050222-6
- Name
- j7e2
- Synonyms
-
- Cx43-P191S (1)
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Stephen L. Johnson Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 20: 40717330 (GRCz11) (1) Details
- Nucleotide change
- G/A
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Pro>Ser at position 191 (1)
- Flanking Sequence
-
CAACGCCAATGGCTGCAACTCATGCCCTGGCGTCAGTTTCTTGTGCTCATGTGTATCATCAGGGTAGTCGAAGGCTTGTGCATGTGAATTGGAGATGGTGCTGCCATTCTGGCCCAAGCGATTCTGTTCTGTGCTGTAGTTGGCCCAATTCTGCTCATTAGCCTGCTTGTTGTAATTGCGGCAAGAGTTGGTCCTTTCGCCGGTGGCCAGTTTGTAGCCTGGAGGTGACATTGGTGAGAGCGGTGCAGTTGGTGAGGAGCAACCATTGTAGTACGCGTATTTGGTCGTAGACAGTTCCTTCGGCGTGGGGCTCAAAGTGCCAGTGGGAAACTGTGTGTTTTGTCGGCTTTTGACGCGGTCCTTGATTCGTTTGAAGAGCACGTAGAAGAGCTCGATGATGTTGAGCAAAAGCGAGAAGAGCGAAACCACTAGCATGAAGATGATGAAGATGGTCTTCTCGGTGGGCCGAGAAAGGAAACAGTCCACCCTATGAGGGCAAG
G/A CGTGCGTTCGCATGTGTACACGGCAGAGAGGCTGAAGCCGTAGAGGTACCATTGGATGACCAGGAAGACCACCTCACAGATGGACTTGAAAATGATGCTGAAGATGTAGGTGCGCAGCAGGCTACCCTTCATCTTCACCTTGCCGTGCTCCTCTAGGCCATGCTTAAACTTCTTGAGCTCGATTTTCTTGAGATGGAGCTCAACGTCGCCGCCGTCGTTCTGCACGGCCTTCAGCTCCTCTTCTTTACGGTTGAGTTTCTCCTCCTTTCGCATCAGGTAGAAGACATGCGCCAGGTACAGGAGCGTCGGCGTGGACACGAAGATGATCTGAAGCACCCAGAAGCGCACGTGCGAGATGGGGAACGATTTGTCATAGCAGACATTCTCGCAACCAGGCTGCTGGGTATTGCACTTGAAAGCTGACTGCTCGTCACCCCAGGCCGATTCCACTGCTGTTCCCAGAACAAGGATCCGGAAGATGAAGAGCACAGAGAGCCAGA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| gja1bj7e2/j7e2 | Homozygous | Unknown | Fig. for (j7e2) from Phenotype Annotation (1994-2006) | ||
| gja1bj7e2/j7e2 (C32) | Homozygous | ♀+/- ♂+/- | Fig. 3  from Hoptak-Solga et al., 2008 | ||
| gja1bj7e2/+ | Heterozygous | Unknown | |||
| gja1bj7e2/j7e2; slc45a2unspecified/unspecified | Complex | Fig. 1 from Daane et al., 2018 |
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Supplemental Information
- Genotyping protocol
- None
- Harper, M., Hu, Y., Donahue, J., Acosta, B., Dievenich Braes, F., Nguyen, S., Zeng, J., Barbaro, J., Lee, H., Bui, H., McMenamin, S.K. (2023) Thyroid hormone regulates proximodistal patterning in fin rays. Proceedings of the National Academy of Sciences of the United States of America. 120:e2219770120e2219770120
- Daane, J.M., Lanni, J., Rothenberg, I., Seebohm, G., Higdon, C.W., Johnson, S.L., Harris, M.P. (2018) Bioelectric-calcineurin signaling module regulates allometric growth and size of the zebrafish fin. Scientific Reports. 8:10391
- Misu, A., Yamanaka, H., Aramaki, T., Kondo, S., Skerrett, I.M., Iovine, M.K., Watanabe, M. (2016) Two different functions of Connexin43 confer two different bone phenotypes in zebrafish. The Journal of biological chemistry. 291(24):12601-11
- Perathoner, S., Daane, J.M., Henrion, U., Seebohm, G., Higdon, C.W., Johnson, S.L., Nüsslein-Volhard, C., and Harris, M.P. (2014) Bioelectric signaling regulates size in zebrafish fins. PLoS Genetics. 10(1):e1004080
- Hoptak-Solga, A.D., Nielsen, S., Jain, I., Thummel, R., Hyde, D.R., and Iovine, M.K. (2008) Connexin43 (GJA1) is required in the population of dividing cells during fin regeneration. Developmental Biology. 317(2):541-548
- Hoptak-Solga, A.D., Klein, K.A., Derosa, A.M., White, T.W., and Iovine, M.K. (2007) Zebrafish short fin mutations in connexin43 lead to aberrant gap junctional intercellular communication. FEBS letters. 581(17):3297-3302
- Iovine, M.K., Higgins, E.P., Hindes, A., Coblitz, B., and Johnson, S.L. (2005) Mutations in connexin43 (GJA1) perturb bone growth in zebrafish fins. Developmental Biology. 278(1):208-219
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