Science
Tools For Researchers
We are partnering with the Rare Disease Translational Center at the The Jackson Laboratory (JAX) to provide researchers with reliable tools for studying PURA Syndrome including a newly developed Knockout PURA Mouse Model and Conditional Knockout PURA Mouse Model. In addition, we have partnered with JAX to create induced pluripotent stem cell (iPSC) lines.
PURA Mouse Models
These PURA Mouse Models were recently featured by the American Society of Gene & Cell Therapy (ASGCT) at their annual meeting, the largest and most respected gathering of researchers and industry leaders working in gene and cell therapy.
PURA-KO Mouse Model
PURA-KO Mice have exon 2 deleted in the PURA gene. These mice may be useful when studying regulatory roles of PUR-α in DNA replication, gene transcription, RNA transport, and mRNA translation.
Click below for further information about this mouse model and instructions on how to order today.
PURA-cKO Mouse Model
PURA-cKO Mice have loxP sites flanking exon 2 of the PURA gene. These mice may be useful for generating conditional mutants when studying regulatory roles of PUR-α in DNA replication, gene transcription, RNA transport, and mRNA translation.
Click below for further information about this mouse model and instructions on how to order today.
PURA iPSC Lines
JAX has created several iPSC lines that can be used to test therapeutics that affect PURA Syndrome’s main symptoms on brain function and motor control.
Engineered Induced Pluripotent Stem Cell Lines
There are 9 iPSC lines available from JAX, you can find them all by clicking below to visit JAX’s iPSC Catalog and typing "PURA" in the search bar.
You'll see the 3 mutations and if you expand each result you can see the 3 lines for each mutation (het, hom and wt/revertant).
Special Thanks to this Project’s Funders
This work is supported in part by the JAX Center for Precision Genetics NIH U54 Grant
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