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Related Experiment Videos

Cleft palate: more genetic lessons from mice.

D M Juriloff1, M J Harris

  • 1Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

Journal of Craniofacial Genetics and Developmental Biology
|January 1, 1988
PubMed
Summary

A new combination of specific mouse genes causes cleft palate in offspring. This genetic interaction, involving at least two gene locations, explains the high occurrence of this developmental trait.

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Area of Science:

  • Developmental biology
  • Genetics
  • Mammalian reproduction

Background:

  • Cleft palate is a common birth defect with complex genetic underpinnings.
  • Parental mouse stocks (LGG and SELH) showed low incidences of cleft palate (<2%).

Purpose of the Study:

  • Investigate the genetic basis for a high frequency (14%) of cleft palate in the F2 generation of a cross between LGG and SELH mouse stocks.
  • Determine the inheritance pattern and identify potential genetic loci involved in cleft palate development.

Main Methods:

  • Cross-breeding of LGG and SELH mouse stocks.
  • Analysis of F2 generation for cleft palate incidence and segregation patterns.
  • Statistical analysis to test genetic models, including epistasis and linkage.

Main Results:

  • High frequency of cleft palate (14%) observed in the F2 generation, significantly higher than in parental stocks.
  • Cleft palate resulted from new allele combinations not present in parents, indicating at least two loci involved.
  • A two-locus epistatic model (PPss and Ppss genotypes) accurately predicted the observed 19% incidence in F2 generation.
  • Higher incidence in males (19%) than females (9%).

Conclusions:

  • A two-locus epistatic model explains the high frequency of cleft palate in the F2 generation.
  • Specific allele combinations at two loci, with one locus potentially linked to Mod-1, are responsible for the trait.
  • This genetic mechanism may offer insights into similar developmental threshold traits in human families.

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