Genomic Feature
tf212b
- ID
- ZDB-ALT-980413-479
- Name
- tf212b
- Synonyms
-
- AF12B (1)
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- Lab of Origin
- Nüsslein-Volhard Lab
- Current Source
- European Zebrafish Resource Center (EZRC) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 24: 16911951 (GRCz11) (1) Details
- Nucleotide change
- G/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>T in Exon 9 (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Gly>Val at position 422 (1)
- Flanking Sequence
-
CTTTAATCTCATGTCTGATCAGTCTAATGCTGAATAAGCGTAGCAATTTGTTTTCTATTTAATCTCTCCATCTGTAACACAAATGAGTAACAAACAATGAATTTCTGCAAACATTTCCAGCTCATCGCCATTGCTACTGGAGGACGTATAGTACCCAGATTCTGTGAACTGACCCCAGAAAAGCTGGGCACCGCTGGACTGGTGAAAGAAATCTGCTTCGGGACCACAAAAGACAGAATGCTGGTCATCGAGGAGTGCAAGAACTCCAGAGCCGTTACCATCTTCATCCGTGGCGGGAACAAAATGGTACATTTTTAGTGCTAAACATGGATGTTTGTCACCCAAAGAAAGTACATGTTTTATATCTTTCTCTTTTTGTCCTTCCTATCTGCTGTTCATCCAAATCATTTAGATTATTGAAGAGGCCAAAAGAGCTCTTCATGATGCCCTGTGTGTCATCCGTAACCTGGTGAGGGATAATCGTATCGTGTATGGTGGTG
G/T AGCCTCAGAGATAGCCTGCGCTCTTGCGGTTAATGAAGCTGCTGATAAGGTATGCTATTTCTGCGGTCGACTATGCTTTTAATTCTGAGGTACAGGATGTTTTTGTTGAGCAGATTGTCTTGTGTTCAGTGCCCGTCTCTGGAGCAGTACGCCATGAGGGCATTCGCTGACGCTCTAGAGGTCATCCCAATGGCACTGGCTGAAAACAGCGGTTTGAACCCCATTCAGACAATGACGGAGGTCAGAGCCCGACAAGTCAAAGAAAACAACTCTGCACTTGGAATTGACTGTCTACATTTATCAACGAATGGTATGGACTTTTTATTGTAAATTAGTGATTTATTGTAAATAAGCAAACAATAAAATGGAAGGGAATTACGCATGATGAATGAGTTTTGTGTACAAAAATCAGAATAGACATCATCTTTTAAATTTGAATCTAATATTTATGTACAATGTACAGTTATGTACAACATTGGTGAAATATTTTCTATTATCAT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| cct5tf212b/tf212b | Homozygous | ♀+/- ♂+/- | Table 1 from Granato et al., 1996 | ||
| cct5tf212b/tf212b | Homozygous | ♀+/- ♂+/- | 2 figures  from Berger et al., 2018 | ||
| cct5tf212b/tf212b (TU) | Homozygous | ♀+/- ♂+/- | 4 figures from Berger et al., 2023 | ||
| cct5tf212b | Unknown | Unknown | Fig. for (tf212) from Phenotype Annotation (1994-2006) | ||
| cct5tf212b/tf212b; pc21Tg; pc22Tg | Complex | Fig. 1 from Berger et al., 2018 | Fig. 1 from Berger et al., 2018 | ||
| cct5tf212b/tf212b; pc22Tg; pc32Tg | Complex | Fig. 2 from Berger et al., 2018 |
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Supplemental Information
- Genotyping protocol
- None
- Berger, S., D Currie, P., Berger, J. (2023) The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis. Journal of Ophthalmic & Vision Research. 18:606760-67
- Berger, J., Berger, S., Li, M., Jacoby, A.S., Arner, A., Bavi, N., Stewart, A.G., Currie, P.D. (2018) In Vivo Function of the Chaperonin TRiC in α-Actin Folding during Sarcomere Assembly. Cell Reports. 22:313-322
- Granato, M., van Eeden, F.J., Schach, U., Trowe, T., Brand, M., Furutani-Seiki, M., Haffter, P., Hammerschmidt, M., Heisenberg, C.P., Jiang, Y.J., Kane, D.A., Kelsh, R.N., Mullins, M.C., Odenthal, J., and Nüsslein-Volhard, C. (1996) Genes controlling and mediating locomotion behavior of the zebrafish embryo and larva. Development (Cambridge, England). 123:399-413
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