Animal model of mucopolysaccharidoses type IVA
AssigneesEsteve Pharmaceuticals, S.A., Universitat Autonoma De Barcelona
InventorsMaria-Fátima Bosch-Tubert, Joan Bertolin-Galvez, Miguel Garcia-Martinez, Victor Sanchez-Clares, Anna-Maria Pujol-Altarriba
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Abstract
The present invention provides a new animal model for mucopolysaccharidosis type IVA or Morquio A syndrome and to methods of generating the animal model and uses thereof.
Claims8
A genetically modified non-human animal model of mucopolysaccharidoses type IVA or Morquio A syndrome comprising a missense mutation in the endogenous Galns gene, wherein said missense mutation is characterized by a substitution of cytosine (C) for thymine (T) at position 1162 (1162 C>T) in a nucleotide sequence as set forth in SEQ ID NO:
- 3 or a mutation in the amino acid sequence as set forth in SEQ ID NO:
- 4 consisting of a substitution of arginine (R) for cysteine (C) at position 388 (R388C), wherein said model expresses at least one phenotype associated with mucopolysaccharidoses type IVA or Morquio A syndrome, and wherein the non-human animal model is a rat model.
Dependencies are inferred from the claim text.