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Related Experiment Videos

X-linked polydactyly (Xpl), a new mutation in the mouse

H O Sweet, P W Lane

    The Journal of Heredity
    |May 1, 1980
    PubMed
    Summary

    A novel X-linked dominant mutation, X-linked polydactyly (Xpl), causes preaxial polydactyly and tibial hemimelia in mice. Genetic mapping places Xpl on the distal X chromosome, linked with specific genetic markers.

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    Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.

    Genetics·2000

    Area of Science:

    • Genetics
    • Developmental Biology
    • Mammalian Genetics

    Background:

    • Limb malformations are common developmental abnormalities.
    • Understanding the genetic basis of limb development is crucial for identifying causes of congenital disorders.

    Purpose of the Study:

    • To characterize a new mutation causing limb malformations in mice.
    • To determine the genetic location of this novel mutation on the mouse X chromosome.

    Main Methods:

    • Phenotypic analysis of affected mice.
    • Linkage analysis to determine chromosomal location.

    Main Results:

    • A new X-linked dominant mutation, X-linked polydactyly (Xpl), was identified.
    • Xpl mice exhibit preaxial polydactyly and tibial hemimelia.
    • Linkage tests mapped Xpl to the distal region of the X chromosome.

    Conclusions:

    • Xpl represents a new model for studying X-linked dominant skeletal malformations.
    • The identified locus provides a starting point for positional cloning and gene identification.

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