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Related Experiment Videos

A new mutation at the cmd locus in the mouse.

L Bell, M Juriloff, M J Harris

    The Journal of Heredity
    |May 1, 1986
    PubMed
    Summary

    A new mouse mutation causes short limb dwarfism and is lethal at birth due to skeletal and organ abnormalities. This autosomal recessive mutation, provisionally named cmdBc, affects cartilage matrix development.

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    Area of Science:

    • Genetics and Developmental Biology
    • Skeletal Dysplasias
    • Mouse Models of Human Disease

    Background:

    • A novel short limb dwarfing syndrome emerged in BALB/cGaBc inbred mice.
    • The condition presented as a Mendelian autosomal recessive lethal mutation.

    Purpose of the Study:

    • To characterize the anatomical, histological, and genetic features of a new dwarfing mutation in mice.
    • To determine the inheritance pattern and potential cause of lethality.

    Main Methods:

    • Segregation analysis to determine inheritance pattern.
    • Anatomical and histological examination of affected newborn mice.
    • Biochemical analysis of cartilage matrix composition.

    Main Results:

    • Newborns exhibited shortened limbs, a shortened head, subcutaneous edema, and liver engorgement.
    • Cartilage displayed a deficiency in extracellular acid mucopolysaccharide and excessive collagen strain.
    • The primary cause of perinatal lethality was identified as a compressed anterior thorax.

    Conclusions:

    • The new mutation, cmdBc, is an allele of the cartilage matrix deficiency (cmd) gene.
    • This mutation provides a new mouse model for studying skeletal dysplasias and cartilage matrix disorders.

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