A mutation of the WFDC1 gene is responsible for multiple ocular defects in cattle

Abdol Rahim Abbasi, Maryam Khalaj, Takehito Tsuji, Muki Tanahara, Kazuyuki Uchida, Yoshikazu Sugimoto, Tetsuo Kunieda

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)


Multiple ocular defects (MOD) in cattle is an autosomal recessive hereditary disorder characterized by dysplasia of the lens, retinal detachment, persistence of the hyaloid artery, and microphthalmia. The locus responsible for MOD has been mapped to the proximal region of bovine chromosome 18. In the present study, we refined the localization of the MOD locus to a 1.0-Mb interval by haplotype analysis using a pedigree of affected animals. Comparison of nucleotide sequence of genes in this region revealed a one-nucleotide insertion in the WFDC1 gene, which resulted in a frame shift mutation and premature termination codon at the middle of the protein. WFDC1 is a small secretory protein containing a WAP-type four disulfide core domain. Specific expression of Wfdc1 was observed in the lens, retina, and optic nerves of embryonic and adult mouse eyes by immunohistochemical staining and in situ hybridization. The present finding demonstrated the essential role of WFDC1 in mammalian eye development.

Original languageEnglish
Pages (from-to)55-62
Number of pages8
Issue number1
Publication statusPublished - Jul 2009


  • Cattle
  • Eye development
  • Hereditary disease
  • Mapping
  • Mutation
  • WFDC1

ASJC Scopus subject areas

  • Genetics


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