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RESEARCH RESOURCES

TSC Natural History Database Project

The Tuberous Sclerosis Alliance launched a web-based TSC Natural History Database in Fall 2006 to collect and store medical information about individuals with tuberous sclerosis complex over their lifetimes.   This information-collecting effort is being conducted through a network of participating TSC Clinics nationwide.   For more information contact the Tuberous Sclerosis Alliance at (800) 225-6872 or email info@tsalliance.org

Brain and Tissue Bank

The Brain and Tissue Bank for Developmental Disorders at the University of Maryland (BTBUMAB), which is under contract with the National Institute of Child Health and Human Development at the National Institutes of Health, collects, stores and distributes human brain and other tissues for research.   For more information, go to their website or contact the Tuberous Sclerosis Alliance at (800) 225-6872 or email info@tsalliance.org.

TSC1 Knockout Mice Available Through NCI

TSC1 knockout mice developed and characterized in the David Kwiatkowski, M.D., Ph.D. laboratory at Brigham & Women's University in Boston are now available through the shared National Cancer Institute animal facility in Frederick, Maryland.

For more information and to obtain animals contact:

Mary Ann Sandeen
msandeen@ncifcrf.gov
MMHCC (Mouse Model Human Cancer Consortium) c/o Receiving and Quarantine Facility NCI-Frederick
Bldg 429 Miller Dr.
Frederick, MD 21702

TSC2 and TSC1 Knockout Mice Available at the Jackson Laboratory

TSC2 knockout mice have been transferred from Dr. David Kwiatkowski's laboratory at the Brigham & Women's Hospital to The Jackson Laboratory.  Homozygous KO mice exhibit embryonic lethality by E12.5 due to hepatic hypoplasia.  All heterozygotes develop bilateral renal cystadenomas and liver hemangiomas by 15 months of age, and some exhibit extremity angiosarcomas or renal carcinoma. Additional information regarding the phenotype of these mice can be found at the Jackson Laboratory website (Stock number 004686).

Transgenic mice expressing a dominant negative mouse Tsc2 gene have been transferred from Jack Arbiser’s laboratory at Emory University. These mice develop skin and brain hamartomas with aggregates of granular cells at the surface cerebellum and collagenous fibrovascular proliferations containing abundant mast cells in the skin.  Additional information regarding the phenotype of these mice can also be found at the Jackson Laboratory website (Stock number 014564).

Dr. Kwiatkowski also transferred his floxed-Tsc1 mutant mice to The Jackson Laboratory. When bred to a strain expressing Cre recombinase, TSC1 expression is abolished in the tissue of interest.  TSC1-deficient mice exhibit growth defects, behavioral defects, premature death, neurological defects, and abnormal cardiac morphology, as seen in Tuberous Sclerosis, depending on the tissue affected. Additional information regarding the phenotype of these mice can be found at the Jackson Laboratory website (Stock number 005680).

For any questions related to ordering mice contact:
 
Customer Service & Support
orderquest@jax.org
The Jackson Laboratory
610 Main Street
Bar Harbor, ME 04609
Phone: 1-800-422-6423
Fax: 1-207-288-6150

TSC1 and TSC2 Variation Database

The TS Alliance has supported the development of comprehensive TSC1 and TSC2 variation databases. These databases are curated by Professor Sue Povey and Dr. Rosemary Ekong at University College London. Researchers and clinicians, as well as the genetic testing laboratories, will be interested in these databases containing all of the known variations (mutations and polymorphisms) in the TSC genes that will be regularly updated and revised as new variations are reported. The TSC1/2 Variation Databases can be accessed at:
TSC1 Variation Database
TSC2 Variation Database


 
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Unlock the Cure: The Tipping Point in the Battle Against TSC
Tuberous Sclerosis Alliance Overview
La Esclerosis Tuberosa (Spanish Intro to TSC)
Infantile Spasms & TSC: A Devastating Diagnosis
Questions & Answers About the TS Alliance


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