A Mouse Model for X-linked Adrenoleukodystrophy (ABCD1 knockout mouse)
JHU REF: [C12414]
Invention novelty: This invention is a mouse model for X-linked adrenoleukodystrophy (XALD). The mouse model is developed to facilitate understanding of XALD pathophysiology.
Value Proposition
XALD is a peroxisomal disorder that leads to severe and progressive neurological disability. The established paradigm in XALD indicates that increased level of beta-oxidation of very long chain fatty acids (VLCFAs) results from faulty degradation. However, this paradigm is questioned. The fact is the complex pathology of X-ALD and the extreme variability of its clinical phenotypes are unexplained. This invention provides a mouse model with XALD. Advantages with the mouse model include:
- Exhibiting biochemical defects equivalent to those found in human XALD
- Bringing deep insight to the pathophysiology of XALD
- Questioning the established paradigm
Technical Details
Johns Hopkins researchers have been working on studying the pathophysiology of XALD. The XALD mouse is developed by gene targeting to facilitate understanding of XALD pathophysiology. The mouse model exhibits reduced beta -oxidation of VLCFAs, resulting in significantly elevated levels of saturated VLCFAs in total lipids from all tissues measured and in cholesterol esters from adrenal glands. The mouse model brings in deep insight to the pathophysiology of XALD. The XALD mouse exhibits biochemical defects equivalent to those found in human XALD and thus provides an experimental system for testing therapeutic intervention.
Looking for Partners: To develop & commercialize the technology as mouse model research reagent
Stage of Development: Completed
Data Availability: N/A
Patent Status: None, Tangible material
Publication(s)/Associated Cases: Proc Natl Acad Sci U S A. 1997 Aug 19; 94(17): 9366–9371
Categories: Research reagent
Keywords: Mouse, X-linked adrenoleukodystrophy (XALD), peroxisomal, beta-oxidation of very long chain fatty acids (VLCFAs)
