Compositions and methods for defining optimal treatment timeframes in lysosomal disease
AssigneeRegeneron Pharmaceuticals, Inc.
InventorsElizabeth Hwang, Katherine Cygnar, Jeremy Rabinowitz, Jose F. Rojas, Aristides Economides
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Abstract
Non-human animals comprising a reverse-conditional null endogenous lysosomal storage disease gene and methods of making such non-human animals are provided. Also provided are methods of using the non-human animals for assessing reversibility of a phenotype of the lysosomal storage disease or for determining an optimal timeframe for treatment of a phenotype of the lysosomal storage disease.
Claims104
A non-human animal comprising in its genome a reverse-conditional null endogenous lysosomal storage disease gene, wherein the reverse-conditional null endogenous lysosomal storage disease gene is a null endogenous lysosomal storage disease gene that is converted to a functional endogenous lysosomal storage disease gene upon treatment with a recombinase.
The non-human animal of any preceding claim, wherein the reverse-conditional null endogenous lysosomal storage disease gene comprises a selection cassette or a reporter gene flanked by recombinase recognition sites for a second recombinase.
The non-human animal of any preceding claim, wherein the non-human animal comprises the reverse-conditional null endogenous lysosomal storage disease gene in its germline.
The non-human animal of any preceding claim, wherein the non-human animal is a mammal.
The non-human animal of any preceding claim, wherein the non-human animal is a rodent.
The non-human animal of any preceding claim, wherein the non-human animal is a mouse or a rat.
The non-human animal of any preceding claim, wherein the lysosomal storage disease gene is a mucopolysaccharidosis gene.
The method of any preceding claim, wherein the lysosomal storage disease gene is an Arsb gene.
A non-human animal cell comprising in its genome a reverse-conditional null endogenous lysosomal storage disease gene, wherein the reverse-conditional null endogenous lysosomal storage disease gene is a null endogenous lysosomal storage disease gene that is converted to a functional endogenous lysosomal storage disease gene upon treatment with a recombinase.
A non-human animal genome comprising a reverse-conditional null endogenous lysosomal storage disease gene, wherein the reverse-conditional null endogenous lysosomal storage disease gene is a null endogenous lysosomal storage disease gene that is converted to a functional endogenous lysosomal storage disease gene upon treatment with a recombinase.
A nucleic acid comprising a reverse-conditional null endogenous lysosomal storage disease gene, wherein the reverse-conditional null endogenous lysosomal storage disease gene is a null endogenous lysosomal storage disease gene that is converted to a functional endogenous lysosomal storage disease gene upon treatment with a recombinase.
A reverse-conditional null endogenous lysosomal storage disease gene,
- wherein the reverse-conditional null endogenous lysosomal storage disease gene is a null endogenous lysosomal storage disease gene that is converted to a functional endogenous lysosomal storage disease gene upon treatment with a recombinase.
Dependencies are inferred from the claim text.