Genomic Feature
hu3072
- ID
- ZDB-ALT-070315-1
- Name
- hu3072
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- adult males treated with ENU
- Lab of Origin
- Cuppen Lab
- Current Source
- European Zebrafish Resource Center (EZRC) ( order this )
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 22: 33191055 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>T at position 1568 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Arg>Stop at position 398 (1)
- Flanking Sequence
-
GGCTCCAGCACATGAAGATTTTGCCTGTGGTCAACAACCGCTTGTTTGACATGTCTGCTTTCATGGCAGGACCAGGAAATGCCAAGAAAGTGGTTGAAAACGGAGCTCTTTTGTCCTGGAAGCTCGGCTGCAGTCTGGATCAAAGCAGCATTCCTGACATTAGCAGTGTTCAGGTTCCAGCAAAAGAGGGGACAATGTCAGCGCAGTTGGGATATCCGGTTGTTGGATGGCATATTGCTAATAAAAAGCCCCATGTGCCCAAAAGGGTGCGAAGGCAGCTCAACAACACCCCCACTCCCATTCCCTCATTACTCCCTCCTACAACTTACCCTGAGCCCCCGATCCGCATCGTTCCAACTCCAACCTCTCCATCTATTGCTCCTACCTCAGAGAGTTCTGCCCCACCTGTCCGTGGTCCCGTGCCCCTTCCTGTGAAACCCACCATTCGAAACAGGGATTCCGCGCCCTCCACTCCAACCTTAGGCCCCCCTCTGCCAACA
C/T GAGTAATGGTCACCACCAGCACTATCGCCATCCAGCCAACAATGACCAGGCCTGTGTATGTTGGAGCCTCTGTTACCCCAGCAACACCTACCACCAGGAAACCTACAAAGAGACCTCCAAAGAAACCCAAGACAACGCCCATACCAAGAGAACCCAAGACCACGACAACCAAGCCACCAAGGCGCAGCACTCCTGCAGTTATAGGCGATAGCAATATAAAACCTGAGCTGCGTAACCCAATTGATCAGGTGAATGCCTATGTTGGCACCTATTTTGAGGTGAAGGTTCCATCGGATACATTTTTTGACAAAGAGGATGGAACTACCGATAAGTTGAGGCTCACTTTGCGCAAGGGCAATGATGTGGTCGCGGATGATTCCTGGATACAGTTTAATAGCACAAGCCAGTTACTGTATGGATTACCTGACCAAGAGCATGCAGGGAAACATGAGTATTTCATGCAAGCAACTGATAAAGGAGGTCTCTATGCAATGGATGCC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| dag1hu3072/hu3072 | Homozygous | ♀+/- ♂+/- | 5 figures from 3 publications | Fig. 1 from Lin et al., 2011 | |
| dag1hu3072/hu3072 (TU) | Homozygous | Unknown | 3 figures  from Wood et al., 2021 | ||
| dag1hu3072 | Unknown | Unknown | |||
| dag1hu3072/+; dmdta222a/+ | Complex | Fig. 1 from Sztal et al., 2012 | |||
| dag1hu3072/+; ilkhu801/+ | Complex | 2 figures from Sztal et al., 2012 | |||
| dag1hu3072/+; lama2teg15a/+ | Complex | 2 figures from Sztal et al., 2012 | |||
| dag1hu3072/hu3072; spns1hi891Tg/hi891Tg | Complex |
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Supplemental Information
- Genotyping protocol
- None
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
- Coffey, E.C., Astumian, M., Alrowaished, S.S., Schaffer, C., Henry, C.A. (2021) Lysosomal Function Impacts the Skeletal Muscle Extracellular Matrix. Journal of developmental biology. 9(4):
- Wood, A.J., Lin, C.H., Li, M., Nishtala, K., Alaei, S., Rossello, F., Sonntag, C., Hersey, L., Miles, L.B., Krisp, C., Dudczig, S., Fulcher, A.J., Gibertini, S., Conroy, P.J., Siegel, A., Mora, M., Jusuf, P., Packer, N.H., Currie, P.D. (2021) FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy. Nature communications. 12:2951
- Ma, R.C., Jacobs, C.T., Sharma, P., Kocha, K.M., Huang, P. (2018) Stereotypic generation of axial tenocytes from bipartite sclerotome domains in zebrafish. PLoS Genetics. 14:e1007775
- Lipscomb, L., Piggott, R.W., Emmerson, T., Winder, S.J. (2016) Dasatinib as a treatment for Duchenne muscular dystrophy. Human molecular genetics. 25(2):266-74
- Kok, F.O., Shin, M., Ni, C., Gupta, A., Grosse, A.S., van Impel, A., Kirchmaier, B.C., Peterson-Maduro, J., Kourkoulis, G., Male, I., DeSantis, D.F., Sheppard-Tindell, S., Ebarasi, L., Betsholtz, C., Schulte-Merker, S., Wolfe, S.A., Lawson, N.D. (2015) Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish. Developmental Cell. 32(1):97-108
- Sztal, T.E., Sonntag, C., Hall, T.E., and Currie, P.D. (2012) Epistatic dissection of laminin-receptor interactions in dystrophic zebrafish muscle. Human molecular genetics. 21(21):4718-4731
- Lin, Y.Y., White, R.J., Torelli, S., Cirak, S., Muntoni, F., and Stemple, D.L. (2011) Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies. Human molecular genetics. 20(9):1763-75
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