OMIA 002423-9913 : Multiple ocular defects, WFDC1-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 605322 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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.

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 (10541187..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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
592 Japanese Black 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.

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