Mutations in IKK gamma
AssigneeThe Regents of the University of California
InventorsKonstantinos Makris, Michael Karin
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Abstract
The present invention relates to compositions and methods involving IKKγ mutants. In particular, the present invention provides methods and compositions, including transgenic animals, suitable for use in determining means to treat, control, and/or prevent incontinentia pigmenti (IP). The present invention also provides methods to detect the presence of mutations in the IKKγ gene and protein.
Claims26
A transgenic nonhuman animal having a genome that comprises a disruption of the endogenous Ikkγ/NEMO gene, wherein said disruption comprises the insertion of a transgene, and wherein said disruption results in a decrease in IKKγ/NEMO expression.
9 The transgenic mouse of claim 2, wherein said mouse exhibits hyperkeratosis.
A cell derived from a transgenic nonhuman animal, wherein the genome of said animal comprises a disruption of the endogenous Ikkγ/NEMO gene, wherein said disruption comprises the insertion of a transgene, and wherein said disruption results in a decrease in IKKγ/NEMO expression.
A method of screening for biologically active agents to treat incontinentia pigmenti (IP), comprising the steps of:
- a) exposing a transgenic mouse to a candidate agent, wherein said transgenic mouse has a genome that comprises a disruption of the endogenous Ikkγ/NEMO gene, wherein said disruption comprises the insertion of a transgene, and wherein said disruption results in a decrease in IKKγ/NEMO expression;
- and
- b) determining the effect of said candidate agent on incontinentia pigmenti (IP) pathology.
A method for detecting a mutant Ikkγ/NEMO gene in an individual comprising detecting IKKα and IKKβ expression, in the absence of IKKγ/NEMO expression, in biopsy material obtained from said individual.
Dependencies are inferred from the claim text.