Genetic background modifies inner ear and eye phenotypes of jag1 heterozygous mice

Genetics. 2007 Sep;177(1):307-11. doi: 10.1534/genetics.107.075960.


Mice heterozygous for missense mutations of the Notch ligand Jagged1 (Jag1) exhibit head-shaking behavior indicative of an inner ear vestibular defect. In contrast, mice heterozygous for a targeted deletion of the Jag1 gene (Jag1del1) do not demonstrate obvious head-shaking behavior. To determine whether the differences in inner ear phenotypes were due to the types of Jag1 mutations or to differences in genetic background, we crossed Jag1del1 heterozygous mice onto the same genetic background as the missense mutants. This analysis revealed that variation of the Jag1 mutant inner ear phenotype is caused by genetic background differences and is not due to the type of Jag1 mutation. Genome scans of N2 backcross mice identified a significant modifier locus on chromosome 7, as well as a suggestive locus on chromosome 14. We also analyzed modifiers of an eye defect in Jag1del1 heterozygous mice from this same cross.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Behavior, Animal
  • Calcium-Binding Proteins / genetics
  • Calcium-Binding Proteins / physiology*
  • Cochlear Diseases / etiology*
  • Cochlear Diseases / pathology
  • Ear, Inner / physiology*
  • Eye Diseases / etiology*
  • Eye Diseases / pathology
  • Female
  • Heterozygote
  • Intercellular Signaling Peptides and Proteins / genetics
  • Intercellular Signaling Peptides and Proteins / physiology*
  • Jagged-1 Protein
  • Male
  • Membrane Proteins / genetics
  • Membrane Proteins / physiology*
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Phenotype
  • Serrate-Jagged Proteins


  • Calcium-Binding Proteins
  • Intercellular Signaling Peptides and Proteins
  • Jag1 protein, mouse
  • Jagged-1 Protein
  • Membrane Proteins
  • Serrate-Jagged Proteins