Rett syndrome (RTT) is a childhood neurodevelopmental disorder that affects females almost exclusively. As the syndrome progresses, inability to perform motor functions interfere with all body movements, including eye gaze and speech. Breathing irregularity is another core symptom of RTT.
Efficacy studies performed by JAX® In Vivo Services for Rett Syndrome primarily utilize whole body plethysmography – measurement of breathing irregularity (also known as “breath holds”) and lung volume changes. Other offerings include neurological scoring and locomotor assessment in response to therapeutics, associated data analyses, and tissue and blood/plasma collection.
Mecp2 KO: the B6.129P2(C)-Mecp2tm1.1Bird/J (003890) strain is a knockout for Mecp2 that exhibits Rett-like phenotypes including mobility and breathing problems apparent at 3-8 weeks of age.