Genomic Feature
ya1847
- ID
- ZDB-ALT-160707-6
- Name
- ya1847
- Synonyms
-
- cntnap2aD121 (1)
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with zinc finger nuclease
- Lab of Origin
- Giraldez Lab
- Current Source
- Zebrafish International Resource Center (ZIRC) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 24: 17871741 - 17871861 (GRCz11) (1) Details
- Nucleotide change
- CTTGATGGTATGGTTTCCAGTTTCTTCCTGTGTCACTATAGAGCAGCCGGTATCGTGTTGTCCAATCAGAACTGCTATATCGACCCTGTGTGGCGACGGCTGTGACCTGTTTTCTGCTTCC/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 121 bp deleted in Exon 3 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- None
- Flanking Sequence
-
AATTCTGGTAGTTCCATAGTTAAAATGATTTGGTTTCAATGGTCAATATAAAGACAGGTTGAGTTTAGAATTTAGTTTGAGGTACTATTATTTGGGTGGCACGGTCTTTTTAGTTTATAAAAAAGAAACCTAATGCATCCACACCATCACTGTCAATATAATTCACAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAATTTTATTTATTTGTTTATTTTTAAATTCCAATTTCTAATTTATTTATATTATTTAACTTCAAAAAAGTTTTTACCTTGCTTGTGCAGAAAAGGGGCTAAATTAAAAATAACAAAGATGGAAACTCATTTGCTGAATAAACTCCTACATAGAACATTACATCCATGTACAAGTGAACAAACATTCATATCCTAATCATAACTTTTTGCATGCACTATATTAATACTCACCCAGATGTTGCCAT
CTTGATGGTATGGTTTCCAGTTTCTTCCTGTGTCACTATAGAGCAGCCGGTATCGTGTTGTCCAATCAGAACTGCTATATCGACCCTGTGTGGCGACGGCTGTGACCTGTTTTCTGCTTCC/- CAGGTCGACCTGCAGCCACTGGTAATGATCACTGTCCAGCGGAGACCAGCCCCCAGCACCTACAGAAACAGCACCATACTCAGTATCTTGTTGTATTGATCTAAAATCTTTGTGGTCTTGTCACACAGGGGTTAGAGAAGAACACAGCAGGAGTAGCTGTCTGTTCACAGTAAATATTACGTGTTCTTTTATCAATTTTAAGGGTATTCATTTAAAGGGTCATGTACTACAGGATAACCTGCAGAAGATGTACAATTTACAGGGATCTGCTGATGTTTGGTAAACTGAATGTTCAAGAGGAACATCTGTGTTATTACTGTATGTTCTCGCTTCTCCAGAAAAGTCTTGGGAACAGATTGTCTTACAGATGTTTTATCTGTGCTTTTAGCCAGAGGCTTTTGGACATTTGTTAAAGTGATTTTTGAAGGATCATTAAATGTTGTAAATAGAACCATTAATATGAAAAAAAATGTTCCGAACACATGGCTCCCATTCTACAT - Additional Sequence
- None
Fish
Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
---|---|---|---|---|---|
cntnap2aya1847/ya1847 | Homozygous | ♀+/- ♂+/- | |||
cntnap2aya1847/+ (AB) | Heterozygous | Unknown | |||
cntnap2aya1847/+; cntnap2bya1955/+ | Complex | Fig. 4 ![]() | |||
cntnap2aya1847/ya1847; cntnap2bya1955/ya1955 | Complex | Fig. 3 ![]() | |||
cntnap2aya1847/ya1847; cntnap2bya1955/ya1955; nns14Tg; ot1Tg | Complex | Fig. 1 ![]() | Fig. 1 ![]() |
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Supplemental Information
- Genotyping protocol
- None
- Weinschutz Mendes, H., Neelakantan, U., Liu, Y., Fitzpatrick, S.E., Chen, T., Wu, W., Pruitt, A., Jin, D.S., Jamadagni, P., Carlson, M., Lacadie, C.M., Enriquez, K.D., Li, N., Zhao, D., Ijaz, S., Sakai, C., Szi, C., Rooney, B., Ghosh, M., Nwabudike, I., Gorodezky, A., Chowdhury, S., Zaheer, M., McLaughlin, S., Fernandez, J.M., Wu, J., Eilbott, J.A., Vander Wyk, B., Rihel, J., Papademetris, X., Wang, Z., Hoffman, E.J. (2023) High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways. Cell Reports. 42:112243112243
- Hoffman, E.J., Turner, K.J., Fernandez, J.M., Cifuentes, D., Ghosh, M., Ijaz, S., Jain, R.A., Kubo, F., Bill, B.R., Baier, H., Granato, M., Barresi, M.J., Wilson, S.W., Rihel, J., State, M.W., Giraldez, A.J. (2016) Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2. Neuron. 89(4):725-33
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