Genetic background modifies inner ear and eye phenotypes of Jag1 heterozygous mice

Amy E. Kiernan, Renhua Li, Norman L. Hawes, Gary A. Churchill, Thomas Gridley*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


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 (Jag1 del1) 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 Jag1 del1 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 Jag1 del1 heterozygous mice from this same cross.

Original languageEnglish
Pages (from-to)307-311
Number of pages5
Issue number1
StatePublished - Sep 2007
Externally publishedYes


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