OMIA:002423-9913 : Multiple ocular defects, WFDC1-related in Bos taurus (taurine cattle) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605322 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2009
Species-specific name: Multiple ocular defects; MOD
Species-specific symbol: MOD
Mapping: Abbasi et al. (2006) reported that they have mapped this locus to a region of BTA18 "that corresponds to a 6.3-Mb segment of human chromosome 16 and a 4.8-Mb segment of mouse chromosome 8. Several positional candidate genes, including FOXC2 and USP10, were identified in this region."
Molecular basis: Abbasi et al. (2009) reported that this disorder is due to a frameshift mutation resulting from the insertion of a single base in the gene for WFDC1.
Breed:
Japanese Black, Japan (Cattle) (VBO_0004987).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| WFDC1 | WAP four-disulfide core domain 1 | Bos taurus | 18 | NC_037345.1 (10520310..10583726) | WFDC1 | Homologene, Ensembl , NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 592 | Japanese Black, Japan (Cattle) | Multiple ocular defects | WFDC1 | insertion, small (<=20) | Naturally occurring variant | ARS-UCD1.2 | 18 | g.10567100_10567101insC | c.321insC | insertion of a single base causes a frame shift mutation and a premature termination codon appeared at codon 126 | 2009 | 19374945 | Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446. The genomic location on ARS-UCD1.2 was determined by Katie Eager and Shernae Woolley, EMAI, NSW. Department of Primary Industries. |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002423-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2009 | Abbasi, AR., Khalaj, M., Tsuji, T., Tanahara, M., Uchida, K., Sugimoto, Y., Kunieda, T. : |
| A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle. Genomics 94:55-62, 2009. Pubmed reference: 19374945. DOI: 10.1016/j.ygeno.2009.04.001. | |
| 2006 | Abbasi, AR., Ihara, N., Khalaj, M., Sugimoto, Y., Kunieda, T. : |
| An integrated radiation hybrid map of bovine chromosome 18 that refines a critical region associated with multiple ocular defects in cattle. Anim Genet 37:58-61, 2006. Pubmed reference: 16441298. DOI: 10.1111/j.1365-2052.2005.01372.x. | |
| Uchida, K., Kunieda, T., Abbasi, AR., Ogawa, H., Murakami, T., Tateyama, S. : | |
| Congenital multiple ocular defects with falciform retinal folds among Japanese black cattle. Vet Pathol 43:1017-21, 2006. Pubmed reference: 17099164. DOI: 10.1354/vp.43-6-1017. | |
| 2005 | Abbasi, AR., Ihara, N., Watanabe, T., Khalaj, M., Tsuji, T., Sugimoto, Y., Kunieda, T. : |
| Linkage mapping of the locus responsible for congenital multiple ocular defects in cattle on bovine Chromosome 18. Mamm Genome 16:731-7, 2005. Pubmed reference: 16245030. DOI: 10.1007/s00335-005-0043-x. | |
| Ihara, N., Fujita, T., Shiga, K., Itoh, M., Watanabe, T., Sugimoto, Y. : | |
| Linkage analysis reveals two independent loci for ocular disorders in a local Japanese Black cattle population. Anim Genet 36:132-4, 2005. Pubmed reference: 15771722. DOI: 10.1111/j.1365-2052.2005.01231.x. |
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- Created by Imke Tammen2 on 11 Sep 2021