Genomic Feature
hu2787
- ID
- ZDB-ALT-090611-7
- Name
- hu2787
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Hubrecht Institute
- Current Source
-
Zebrafish International Resource Center (ZIRC)
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European Zebrafish Resource Center (EZRC) ( order this ) - Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 14: 20160043 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T at position 432 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: at position 113 (1)
- Flanking Sequence
-
TGGATTGAACATGAAACAATTAAGTTGTCCCAAAACAAATCTCAAAAATTGTGTTGTTTAAGCTATTTTTAAATAATTAGTTTAAACAAGCAATTTTTTGAGTGTTCACTGTAAAAATGAAGGCTTCGACACTTATCAACATTTATTCATGTTTTGCCAATACAAATCGATTAAGGTAACTCTCTCTCTTTTTGGCAAATTTAAGTTGATTGAACATAAAAGAATTAAGTTGTCCCAAAACAAATCTCAATAATTATTATTTTTTTGTTTATTTAGCTTGTTTTAAATAAGTTTGAACAAGCCAGTTTTTTTTTCGTGTAGTAGATTAAAACATTAAACATTACATTGATTCAAATTTGTTTTATGCTTGCATGAAGTTGTATGTAAATTTATGTATTTGCTAATTATTTGTGTTCACTTTCCTGCTCTTTTAGTTTTACGTTATAGAATATGCAGCCTGTGATGCCACCCTAAATGAAATCGTCACATTAGAGAGGCTA
C/T GACCTGTGAACCCCAACAAAGCAGCAACAAAGAACACCTTTCTCAAAACCAGACTAGATGTTCCTGAAGACTTGAGACAGATGTAAGTTGGTAGCTTTTTCATTATTTTAGTGGGGATTCCTGCAGCATTGGACAATACATTGAGAAATCCAGTCATAAAAAAATCATTAACTAATGCAGGATGTCATGGAGTTTGGCCAATTTTGGATAAATAAATCAAAAGCAGAGTTTTAAACTTAATCAAACTACAAAGCAGAATAGTGTATGTGAATATTAAACTGCAATGACAAAATGTGAACTTCTCTCCAGAGCTGCTTTAAAAATCCTTTATGATAATTTTTATGGTTTAATCCAGGACCACAAAACCATAAAAGTCATAAATGTCTTTTTTTTTTTTAACTGTGATTTTATATATCTTCTTAAAGCCAAATAAGTAAACTTTTCATTGATGTGTAATTTTTTAGGTTAAGACAATATTTAGCCCAGATACAACTAATTGA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| fmr1hu2787/hu2787 | Homozygous | Unknown | FIGURE 2  from Barker et al., 2022 | 2 figures from Barker et al., 2022 | |
| fmr1hu2787/hu2787 | Homozygous | ♀+/- ♂+/- | 13 figures from 5 publications | 2 figures from 2 publications | |
| fmr1hu2787/hu2787 (AB) | Homozygous | ♀+/- ♂+/- | 6 figures from Kim et al., 2014 | ||
| fmr1hu2787/hu2787 (TL) | Homozygous | ♀+/- ♂+/- | Fig. 1 from den Broeder et al., 2009 | ||
| fmr1hu2787/hu2787 (TL) | Homozygous | ♀-/- ♂-/- | 2 figures from den Broeder et al., 2009 | ||
| fmr1hu2787/+ | Heterozygous | ♀+/- ♂+/- | Fig. 2 from Marsden et al., 2018 | ||
| fmr1hu2787/+ (AB) | Heterozygous | Unknown | |||
| fmr1hu2787/+ (TL) | Heterozygous | ♀+/- ♂+/- | text only from den Broeder et al., 2009 | ||
| fmr1hu2787/+ (WIK) | Heterozygous | Unknown | |||
| fmr1hu2787 | Unknown | Unknown |
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Supplemental Information
- Genotyping protocol
- None
- Miles, K.D., Barker, C.M., Russell, K.P., Appel, B.H., Doll, C.A. (2024) Electrical synapses mediate embryonic hyperactivity in a zebrafish model of Fragile X syndrome. The Journal of neuroscience : the official journal of the Society for Neuroscience. 44(31):
- Zhu, S.I., McCullough, M.H., Pujic, Z., Sibberas, J., Sun, B., Darveniza, T., Bucknall, B., Avitan, L., Goodhill, G.J. (2023) fmr1 mutation alters the early development of sensory coding and hunting and social behaviors in larval zebrafish. The Journal of neuroscience : the official journal of the Society for Neuroscience. 43(7):1211-1224
- Barker, C.M., Miles, K.D., Doll, C.A. (2022) Fmrp regulates neuronal balance in embryonic motor circuit formation. Frontiers in neuroscience. 16:962901
- DeMarco, E.C., Stoner, G.R., Robles, E. (2022) A genetic labeling system to study dendritic spine development in zebrafish models of neurodevelopmental disorders. Disease models & mechanisms. 15(8):
- Marquez-Legorreta, E., Constantin, L., Piber, M., Favre-Bulle, I.A., Taylor, M.A., Blevins, A.S., Giacomotto, J., Bassett, D.S., Vanwalleghem, G.C., Scott, E.K. (2022) Brain-wide visual habituation networks in wild type and fmr1 zebrafish. Nature communications. 13:895
- Barthelson, K., Baer, L., Dong, Y., Hand, M., Pujic, Z., Newman, M., Goodhill, G.J., Richards, R.I., Pederson, S.M., Lardelli, M. (2021) Zebrafish Chromosome 14 Gene Differential Expression in the fmr1hu2787 Model of Fragile X Syndrome. Frontiers in genetics. 12:625466
- Constantin, L., Poulsen, R.E., Scholz, L.A., Favre-Bulle, I.A., Taylor, M.A., Sun, B., Goodhill, G.J., Vanwalleghem, G.C., Scott, E.K. (2020) Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome. BMC Biology. 18:125
- Doll, C.A., Yergert, K.M., Appel, B.H. (2019) The RNA binding protein fragile X mental retardation protein promotes myelin sheath growth. Glia. 68(3):495-508
- Marsden, K.C., Jain, R.A., Wolman, M.A., Echeverry, F.A., Nelson, J.C., Hayer, K.E., Miltenberg, B., Pereda, A.E., Granato, M. (2018) A Cyfip2-Dependent Excitatory Interneuron Pathway Establishes the Innate Startle Threshold. Cell Reports. 23:878-887
- Wu, Y.J., Hsu, M.T., Ng, M.C., Amstislavskaya, T.G., Tikhonova, M.A., Yang, Y.L., Lu, K.T. (2017) Fragile X Mental Retardation-1 Knockout Zebrafish Shows Precocious Development in Social Behavior. Zebrafish. 14(5):438-443
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