Genetic Diseases

CVM (Complex Vertebral Malformation): It consists of malformations in cervical and thoracic regions of the vertebral column and symmetric contraction and rotation of the fetlock and phalanxes. A test based on the direct analysis of the disease responsible gene is available.


BLAD (Bovine Leukocyte Adhesion Deficiency): It is caused by a lack of ß2 integrin molecules on the surface of leukocytes.


DUMPS (Uridine Monophosphate Synthetase Deficiency): This deficiency prevents the synthesis of UMP (Uridin Monofosfato), precursor of pyrimidine nucleotides, which are essential in the DNA and RNA biosynthesis.

Citrullinemia: It is caused by the activity deficiency of Argininosuccinic acid Synthetase, which causes alterations in the cycle of the urea.

Factor XI Deficiency

Factor XI (FXI) is a plasma protein implicated in the blood coagulation process. Deficiency of Factor XI is an autosomal recessive genetic disease described in Holstein cattle.

Double muscling
Double muscling: This syndrome is caused by a series of mutations that disrupt the myostatin protein function. The myostatin gene (MSTN) or Growth and Differentiation Factor – 8 (GDF-8), belongs to the family of Transforming Growth Factors (TGF), which are indispensable for the regulation of muscle growth. A test to detect the main mutations that cause an inactive MSTN is available.

Complex Vertebral Malfromation in a Holstein calf -
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