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Abnormal facial development in the mouse mutant first arch.

D M Juriloff, M J Harris

    Journal of Craniofacial Genetics and Developmental Biology
    |January 1, 1983
    PubMed
    Summary
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    The first arch mutation (far) in mice causes severe craniofacial defects, including cleft palate and abnormal vibrissae. These defects originate from the maxillary facial process during early embryonic development.

    Area of Science:

    • Developmental biology
    • Craniofacial genetics
    • Mouse models of birth defects

    Background:

    • The first branchial arch is crucial for craniofacial development.
    • Mutations affecting the first arch can lead to severe birth defects.

    Purpose of the Study:

    • Characterize craniofacial defects in mice homozygous for the 'far' mutation.
    • Investigate potential heterozygote expression.
    • Determine the embryogenesis of these defects.

    Main Methods:

    • Genetic analysis of 'far' homozygous mice at day 18 of gestation.
    • Developmental study of 'far' embryos at day 12 of gestation.

    Main Results:

    • Homozygotes exhibit cleft palate, pointed snout, disorganized vibrissae, and open eyes.

    Related Experiment Videos

  • Absence of infraorbital vibrissae and presence of facial skin tags are common in homozygotes.
  • Defects in palatal shelves and vibrissal ridges, along with abnormal trigeminal nerve development, are evident by day 12.
  • Conclusions:

    • The 'far' mutation specifically affects the maxillary facial process of the first branchial arch.
    • Craniofacial defects in 'far' homozygotes stem from abnormalities present by day 12 of gestation.
    • The study identifies specific phenotypic markers for identifying affected embryos for further research.