OMIA 000733-9913 : Multiple ocular defects in Bos taurus

In other species: dog , horse , alpaca

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

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

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Japanese Black Multiple ocular defects WFDC1 insertion, small (<=20) UMD3.1 18 g.10570493 c.321insC insertion of a single base in the gene for WFDC1 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

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.
1987 Kaswan, RL., Collins, LG., Blue, JL., Martin, CL. :
Multiple hereditary ocular anomalies in a herd of cattle. J Am Vet Med Assoc 191:97-9, 1987. Pubmed reference: 3112051.
1984 Rupp, GP., Knight, AP. :
Congenital ocular defects in a crossbred beef herd. J Am Vet Med Assoc 184:1149-50, 1984. Pubmed reference: 6427162.

Edit History


  • Created by Frank Nicholas on 10 Jul 2009
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011