Lysosomal storage diseases (LSDs) are a group of rare, heritable disorders caused by defective or deficient lysosomal enzymes which are critical for processing of molecules in the cell. The lysosomes play a key role in the normal processing of proteins, fats, carbohydrates and nucleic acids, as well as removal of cell waste. They also contribute to cell defense in the destruction of bacteria and viruses taken in by the cell. Defects in any of these functions can lead to build up of toxic substances in cells and contribute to dysfunction and disease in the nervous system, musculature, and organs throughout the body.
JAX offers a robust portfolio of mouse models and services for LSD research, including Krabbe, Niemann-Pick, and Pompe disease, supporting rare disease and metabolic disease researchers.
Common Strain Name | Gene Target | Phenotype | Disease Latency | Details |
|---|---|---|---|---|
Twitcher | Galc |
|
| |
npcnih | Npc1 |
| 1 month |
|
6neo | Gaa |
| 1 month |
|
JAX offers preclinical services to support research for lysosomal storage diseases, including Krabbe, Niemann-Pick, and Pompe disease. Leveraging our well-characterized LSD mouse models, our scientific teams design and execute custom study protocols.
Available study readouts include:
Consult with JAX About Running Your LSD Study
Study variables differ depending on your model of choice and research needs.
Below is a sample study:
| Timeline | Depending on model |
|---|---|
| Groups | Typical n per group: N=12, mixed sex |
| In vivo Readouts | Once
Weekly (or 2x weekly)
3 Time Points
Other
|
| Daily Dosing | Options: IP/PO/SC/IV |
| Post Mortem |
|
Krabbe Disease Model: B6.CE-Galctwi/J 000845
Quantification of (A) globoid cell accumulation and (B) demyelination in brain and spinal cord tissue from wild-type (WT, gray), heterozygous (HET, green), and homozygous twitcher (HOM, blue) mice, scored on a pathology scale (0-3). Globoid cells are absent in WT and HET tissue but markedly elevated in both brain and spinal cord of HOM animals. Demyelination is minimal in WT and HET mice but significantly increased in HOM spinal cord.
Niemann-Pick Disease Model: BALB/cNctr-Npc1m1N/J 003092
Average latency to fall (sec, mean ± SEM across 3 trials) on an accelerating rotarod, assessed in (left) females and (right) males at 6, 8, and 15 weeks of age. Groups include vehicle-treated wild-type controls (gray), vehicle-treated NPC mice (open blue), and AAV9-treated NPC mice (filled blue). Vehicle-treated NPC animals show progressive motor decline relative to wild-type controls with age, while AAV9 treatment partially preserves motor performance at 6 and 8 weeks in both sexes.
Pompe Model: B6;129-Gaatm1Rabn/J 004154
CMAP amplitude (mV, mean ± SD) measured longitudinally from 12 to 28 weeks of age in wild-type (gray) and Gaatm1Rabn (blue) mice, shown separately by sex (left and right panels, presumed male/female). CMAP is consistently reduced in Gaatm1Rabn mice relative to wild-type controls across all timepoints in both sexes, consistent with progressive neuromuscular dysfunction.
Watch this webinar to hear from JAX's In Vivo Services team on how our well-characterized, clinically relevant models and custom research assays can help you overcome key challenges in gene therapy development. The team shares case studies demonstrating how JAX's platforms have successfully supported gene therapy programs from early discovery through IND-enabling studies.
