Peer-reviewed veterinary case report
Holstein calf born with no pigment and small eyes due to gene deletion
By Wiedemar, Natalie & Drögemüller, Cord·Published in Animal genetics·2014·Institute of Genetics·View original on PubMed →
PetCaseFinder translated the abstract of this peer-reviewed paper into plain English so pet owners can read it. We do not publish original research — every detail traces back to the citation above. How we work →
Original publication title: A 19-Mb de novo deletion on BTA 22 including MITF leads to microphthalmia and the absence of pigmentation in a Holstein calf.
- Species:
- rodent
Plain-English summary
A Holstein calf was born with no skin pigmentation and very small eyes, a condition known as microphthalmia. Genetic testing revealed a large deletion on one of the calf's chromosomes that affected a gene called MITF, which is important for pigmentation and eye development. This deletion likely caused the calf's unusual appearance by reducing the function of several genes in that area. Unfortunately, the calf's condition is linked to genetic issues inherited from its parents.
People also search for: Holstein calf lack of pigmentation · calf microphthalmia causes · MITF gene function in animals
Abstract
Mutations in MITF lead to a large variety of phenotypes in human, mice and other species. They mostly affect pigmentation and hearing, whereas in mice, they may additionally cause microphthalmia and osteopetrosis. In this study, we report a single case of a Holstein calf with lack of pigmentation and microphthalmia born to healthy parents. Mendelian analysis of high-density SNP genotypes reveals a large number of parentage errors showing missing paternal alleles in the offspring, indicating a deletion encompassing 19 Mb on BTA 22. The genomic deletion affects the paternal allele and includes MITF and 131 other annotated genes. As the calf shows only one copy of the BTA 22 segment, the observed phenotype is probably caused by haploinsufficiency of the genes in that genomic region. Both the observed lack of skin pigmentation and reduced eye size can most likely be explained by a lack of MITF function.
Find similar cases for your pet
PetCaseFinder finds other peer-reviewed reports of pets with the same symptoms, plus a plain-English summary of what was tried across them.
Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/25199536/