| ZFIN ID: ZDB-PUB-990824-38 |
A recessive mutation leading to vertebral ankylosis in zebrafish is associated with amino acid alterations in the homologue of the human membrane-associated guanylate kinase DLG3
König, C., Yan, Y.L., Postlethwait, J., Wendler, S., and Campos-Ortega, J.A.
| Date: | 1999 |
|---|---|
| Source: | Mechanisms of Development 86(1-2): 17-28 (Journal) |
| Registered Authors: | Campos-Ortega, Jose, König, Christoph, Postlethwait, John H., Yan, Yi-Lin |
| Keywords: | zebrafish; vertebral ankylosis; DLG3 |
| MeSH Terms: |
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| PubMed: | 10446262 Full text @ Mech. Dev. |
Citation
König, C., Yan, Y.L., Postlethwait, J., Wendler, S., and Campos-Ortega, J.A. (1999) A recessive mutation leading to vertebral ankylosis in zebrafish is associated with amino acid alterations in the homologue of the human membrane-associated guanylate kinase DLG3. Mechanisms of Development. 86(1-2):17-28.
ABSTRACT
We describe the characterization of the zebrafish homologue of the human gene DLG3. The zebrafish dlg3 gene encodes a membrane-associated guanylate kinase containing a single PDZ domain. This gene was cloned using a gene-trap construct inserted in the gene's first intron. The insertion co-segregates with a viable mutation called humpback (hmp), which leads to formation of ankylotic vertebrae in adult fishes. Insertion and mutation have both been mapped to chromosome 12, in a segment which is syntenic with region p12 to q12 of human chromosome 17. The hmp mutant phenotype, however, appears to be due to two point mutations in the guanylate kinase domain rather than to the transgene insertion itself. The results of this study are discussed in the light of the possible function of the guanylate kinase domain.
ADDITIONAL INFORMATION
- Genes / Markers (7)
- Antibodies (1)
- Expression Data
- Mapping Details (4)
- Mutations and Transgenics (1)
- Fish (2)