Genomic Feature
j7e1
- ID
- ZDB-ALT-050222-2
- Name
- j7e1
- Synonyms
-
- Cx43-F30V (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: 40717813 (GRCz11) (1) Details
- Nucleotide change
- A/C
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>G (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Phe>Val at position 30 (1)
- Flanking Sequence
-
CACCCTATGAGGGCAAGGCGTGCGTTCGCATGTGTACACGGCAGAGAGGCTGAAGCCGTAGAGGTACCATTGGATGACCAGGAAGACCACCTCACAGATGGACTTGAAAATGATGCTGAAGATGTAGGTGCGCAGCAGGCTACCCTTCATCTTCACCTTGCCGTGCTCCTCTAGGCCATGCTTAAACTTCTTGAGCTCGATTTTCTTGAGATGGAGCTCAACGTCGCCGCCGTCGTTCTGCACGGCCTTCAGCTCCTCTTCTTTACGGTTGAGTTTCTCCTCCTTTCGCATCAGGTAGAAGACATGCGCCAGGTACAGGAGCGTCGGCGTGGACACGAAGATGATCTGAAGCACCCAGAAGCGCACGTGCGAGATGGGGAACGATTTGTCATAGCAGACATTCTCGCAACCAGGCTGCTGGGTATTGCACTTGAAAGCTGACTGCTCGTCACCCCAGGCCGATTCCACTGCTGTTCCCAGAACAAGGATCCGGAAGATGA
A/C GAGCACAGAGAGCCAGACCTTCCCTCCGGCCGTGGAGTAGGCCTGCACCTTGTCAAGAAGCCTTCCCAACGCACTCCAGTCACCCATCTTGAGGGAGTTCTAGCTGAAAATAGAAAGCTCATATGTAATCAAATGTATTTAGACACTTTGGTGACACTTGAATATGTCTTAATGTCACTGTATTAGATGCACACTATCAAAGTGACAAATAATACTTCACATTATTTTCTTTTAACCAAACAGTCCATCACTTTTACTGCATTTATGAAAACAGTTCCCCTTCAAGTTCATGCTACTATAATATAAAGTCATATACATATATTAGTTACTTGGCTTTTTTTGAAAAGTTGTAGTGATTATGTAATGCAAAGATGACATTTAAACACGTTGAAGTGTGGCTTATGTGTCCATAAACTTTTTTTTTTAATCTGAGGTCACTGTAGGCACATAATGAAAGTGTTAGTTTCAGCACCTGCTGAGGATGTTATTATGAAAATAAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| gja1bj7e1/j7e1 | Homozygous | Unknown | Fig. for (j7e1) from Phenotype Annotation (1994-2006) | ||
| gja1bj7e1/j7e1 (C32) | Homozygous | ♀+/- ♂+/- | Fig. 3  from Hoptak-Solga et al., 2008 |
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Supplemental Information
- Genotyping protocol
- None
- 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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