RARE DISEASE MOUSE MODELS

: Rare Disease Mouse Models

Rare diseases are diseases with very low incidence. The exact incidence threshold that defines rare diseases differs from nation to nation. Over 7,000 different types of rare diseases have been diagnosed. Combined, rare diseases impact around 350 million individuals globally. Among all identified rare diseases, over 80% are hereditary, and 90% are linked with severe symptoms. Despite significant investment in therapeutic development for rare diseases, there are no effective treatments for the majority of rare diseases and translational research for these diseases lags significantly behind research in other disease areas. Innovative mouse models of rare diseases are valuable tools for such research. GemPharmatech has established models for multiple rare diseases including hemophilia, Duchenne muscular dystrophy, and many neurologically related rare diseases such as hemophilia A and progressive muscular dystrophy.

A table with select rare disease mouse models currently available at GemPharmatech:

Strain Number	Strain Name	Strain Type	Disease Indication
T011802	B6-Pah-KO	KO	Phenylketonuria
T052634	B6-Fah-KO	KO	Tyrosinemia
T012717	B6-Gla-KO	KO	Fabry Disease
T057359	NCG-Gla-KO	KO	Fabry Disease
T056726	NCG-Idua-W392X	KI	Mucopolysaccharidosis type I
T004727	B6-F8-KO	KO	Hemophilia A
T003802	NCG-X	Point Mutation	Thalassemia
T013887	B6-Cfh-KO	KO	Atypical Hemolytic Uremic Syndrome
T004753	B6-Rag1-KO	KO	Primary Combined Immune Deficiency

(Click the strain number to be taken to the model product page)

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