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

First Author  Kiernan AE Year  2007
Journal  Genetics Volume  177
Issue  1 Pages  307-11
PubMed ID  17890364 Mgi Jnum  J:125211
Mgi Id  MGI:3757837 Doi  10.1534/genetics.107.075960
Citation  Kiernan AE, et al. (2007) Genetic background modifies inner ear and eye phenotypes of jag1 heterozygous mice. Genetics 177(1):307-11
abstractText  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.
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