Genomic Feature
fr21
- ID
- ZDB-ALT-100526-1
- Name
- fr21
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- ENU
- Lab of Origin
- Hammerschmidt Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 12: 5613343 (GRCz11) (1) Details
- Nucleotide change
- A/G
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>C (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Ser>Pro at position 427 (1)
- Flanking Sequence
-
CAACAAACAAAAAAACACTGTGGCAAAAATATATTTATATATATTCCAATAATAATAATAATAATAATAATAATAATAATAATAATTATTATTATTATTATTATTATAGCAAGAAATTCTCACATTGGGACAAATTATATATAATATAAATAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAATATTTATATATAATATATATATTTAAATTGCATATAAAGAAAATTTCATATGTACACAAGAGGGATTATGTGATGATGACATTCAGAAGACTTCAAGTAGGCATACATTTTGTATTTATATACAGTATTTAGAGTCCTGCAAAATCCCTGTGAATAATATGAACATCTACTGTATTAAACACTAAACAGCGAACCTCAAGAGTGCGATGCGGTCATCCAAAGAGCCCACCAAAATATCTGGATAATCATTTCCATCCATATCCATTCCTCCACTGAGAG
A/G ATAACCAAACGTCTGAAAACCACTGGGACCCAATGACTTACCCTCGATCACCTGACAGAAACACACACACACACATGAAAAATCATGTCAAATTGCTGTTGCTAGATCATAATTCAGCAGTATAATTATATAATATGAAACTGTAGGCAATTTTAGATATAAAGTCGTTCCATACAAATCCCATGATGCTTTGCTTTACCTGGCTTGGTTCTTTAGTTATTCCACTTTTACTTCCCATCCATATGTAGACTTTTCCAGAGTCCTGGAATGGAGCGCCGACAGCAATATCTGAATGAAGAAACCAAAACACAAGATACACACACACACACACACAAAACATAACTAACACTGCATCACCTCTAGAGGGCAGCATGACTATACAAAACACAAGAAAGGACTACACTCAAACTGTCACAAGTGTCTAGTAGTTTTTTAAAACACTACACACAATTCTCTGCATTTGGCACAATTTCCATGCAAATAAAATAGCTTGTTTTCAC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| itga3bfr21/fr21 | Homozygous | ♀+/- ♂+/- | 2 figures  from 2 publications |
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Supplemental Information
- Genotyping protocol
- None
- Postel, R., Margadant, C., Fischer, B., Kreft, M., Janssen, H., Secades, P., Zambruno, G., and Sonnenberg, A. (2013) Kindlin-1 mutant zebrafish as an in vivo model sytem to study adhesion mechanisms in the epidermis. The Journal of investigative dermatology. 133(9):2180-90
- Carney, T.J., Feitosa, N.M., Sonntag, C., Slanchev, K., Kluger, J., Kiyozumi, D., Gebauer, J.M., Coffin Talbot, J., Kimmel, C.B., Sekiguchi, K., Wagener, R., Schwarz, H., Ingham, P.W., and Hammerschmidt, M. (2010) Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel Fraser Syndrome disease genes. PLoS Genetics. 6(4):e1000907
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