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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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[Inherited thrombopathia in Simmental cattle].

M Aebi, N Wiedemar, C Drögemüller

    Schweizer Archiv Fur Tierheilkunde
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    Summary
    This summary is machine-generated.

    Persistent bleeding in Simmental cattle is linked to a recessive RASGRP2 mutation. Genetic testing identified 10% of artificial insemination sires as carriers, necessitating careful breeding management.

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    Area of Science:

    • Genetics
    • Veterinary Medicine
    • Animal Breeding

    Background:

    • Persistent bleeding disorders in Simmental cattle can lead to significant economic losses and animal welfare concerns.
    • Understanding the genetic basis of such conditions is crucial for effective herd management and disease prevention.

    Observation:

    • Five Simmental cattle presented with persistent bleeding after trauma between 2012-2014.
    • All affected animals were homozygous for the RASGRP2 mutation, with heterozygous carrier parents, confirming recessive inheritance.
    • Three animals died from bleeding, one was stabilized and later slaughtered, and another was euthanized due to bleeding and hematomas.

    Findings:

    • The RASGRP2 mutation, previously identified, was confirmed as the cause of the bleeding disorder.
    • A carrier frequency of 10% was detected in 145 Simmental sires used for artificial insemination in Switzerland.
    • Affected animals exhibited persistent bleeding and hematomas, often leading to fatal outcomes.

    Implications:

    • The identification of RASGRP2 carriers in Simmental sires is critical for breeding programs.
    • Genetic testing and selection against carrier bulls (TP carriers) are essential to reduce the incidence of this bleeding disorder.
    • Implementing gene testing by breeding organizations can prevent uncontrolled use of carrier sires, improving herd health and genetic integrity.