Genomic Feature
sa16768
- ID
- ZDB-ALT-131217-12947
- Name
- sa16768
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation
- Protocol
- adult males treated with ENU
- Lab of Origin
- Stemple Lab
- Current Source
-
European Zebrafish Resource Center (EZRC)
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Zebrafish International Resource Center (ZIRC) ( order this ) - Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 22: 16899670 (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
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
ATAGTGGATTCAACCCATTGTTCTGAAAAACCGAGCTGAGAAACCAAAGAAGCTTTCCTCCTGCACACTGGTTAATCACTATCCTCATCCTACCTTTGAGCGGAATTTGAGACGCTTGAACTAACATGATTTGGACATTGTGGTTTTAATCTGCTAAAGGCCTTCATGTAATAGGGCGAAACTGGTCTTAGGAAACCTCACCGCCACAAATAAAGCTAAGCTGAAGGTTATGACCCTTCCACGACATCTTTATTGAATTCAACTAACCTAATTTTAGGTTGATTATGAAAGCTCAATAAATTGATTTTAATGGTTCAAGTCAAATTATAACTGACCTAAGGAGTTTTTACTTAAAAGACGGCACACTTTGAAAGGCAACACTGCTAAGATAATAAGACTTGTTTTCAGAGACTGATTCATTCATAAACAGATGAGTCAAAGACGCTCAATGATGTCCCAAAAGGAAGAATAATCATTATAAGATGTGGAGATCTTACTCT
G/A TGAGACTCGCACTAGCTCAGAGACGGTGAAGACACCTGATGTGACGAAACTGTCCTGGAAGCCAAGGTGCCCTAGGAGACAAAAATGAAAGAGGAGAAAGACTGTTATCTGAATGAACATGACAGAATACAGAGCAAAGACAGCCTCTATGTCAACAACACACTCACACGCACACATAGTCCCAGTGGGAAAGAGAATAGGGAGTGTTTTGAGTGACACAGAGGGTAGAGCACATCTGGATTCGGTCCCATGAGTGTCTGAAGTACAGTGGGGCAGAGGCGCAGTGCAGTGCATCACACACACACAACGAGGAGCTGTATGCTAAGCCCAAGAATTCACAATTATTATCTGTTTACATATGATACGTGGTGGAATCTCGGTCAAAAGCATTCTTTGTTCGGCAGGCAGTCGGTTGCCTTTTCCAGCAGACAGACCACAATTACTGTGTTCATAATGCTGACTACAGCTGACCCAGGACCTGCCACACATCCTGCGGCCTC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| nfiasa16768/sa16768 | Homozygous | ♀+/- ♂+/- | 3 figures  from 2 publications |
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Supplemental Information
- Genotyping protocol
- None
- Ogura, Y., Uehara, T., Ujibe, K., Yoshihashi, H., Yamada, M., Suzuki, H., Takenouchi, T., Kosaki, K., Hirata, H. (2022) The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant. American journal of medical genetics. Part A. 188(4):1184-1192
- Uehara, T., Sanuki, R., Ogura, Y., Yokoyama, A., Yoshida, T., Futagawa, H., Yoshihashi, H., Yamada, M., Suzuki, H., Takenouchi, T., Matsubara, K., Hirata, H., Kosaki, K., Takano-Shimizu, T. (2021) Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles. American journal of medical genetics. Part A. 185(7):2084-2093
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