Tag: mouse models

Characterization of fever-sensitive circuits and their effects on social behaviors in autism mouse models

Dulac aims to identify neurons activated during fever episodes and reveal how they may modulate neural circuits governing social interactions in mice. She also plans to study behavioral changes in autism mouse models during febrile periods.

Subcortical multisensory integration in mouse models of autism spectrum disorder

Individuals with autism spectrum disorder experience difficulty integrating across sensory modalities, such as sight and sound. Multisensory integration is particularly prevalent in the subcortical superior colliculus, yet studies to date have not investigated its potential contributions to ASD. In this study, Feinberg plans to test the hypothesis that superior colliculus multisensory integration is altered in mouse models of ASD.

Understanding SynGAP1 regulatory mechanisms using an optical reporter of ERK activity

Sung Eun “Samuel” Kwon plans to use a recently developed optical reporter of ERK activity, combined with a neuronal activity reporter, to monitor the dynamics of ERK signaling and neuronal activity in awake-behaving SynGAP mutant mice.

Normal human chromosomes visualized by spectral karyotyping (SKY). Spectral karyotyping is a molecular cytogenetic technique used to simultaneously visualize all the pairs of chromosomes in an organism in different colors. Fluorescently labeled probes for each chromosome are made by labeling chromosome-specific DNA with different fluorophores. Because there are a limited number of spectrally distinct fluorophores, a combinatorial labeling method is used to generate many different colors. Spectral differences generated by combinatorial labeling are captured and analyzed by using an interferometer attached to a fluorescence microscope. Image processing software then assigns a pseudo color to each spectrally different combination, allowing the visualization of the individually colored chromosomes. This technique is used to identify structural chromosome aberrations in cancer cells and other disease conditions when Giemsa banding or other techniques are not accurate enough.

SFARI Gene: New data release

New data were added to SFARI Gene in April 2018. This data release included updated gene scores for candidate autism risk genes, as well as the addition of new genes, animal models, and copy number variant loci associated with autism.

Development of CRISPR activation therapeutics to rescue SCN2A function

Haploinsufficiency in SCN2A is among the most common risk factors for autism spectrum disorder (ASD). Using Scn2a heterozygous mice, the Ahituv lab will utilize CRISPR activation (CRISPRa) technologies to upregulate Scn2a expression and assess whether synaptic function deficits can be rescued. This work will provide insights into the therapeutic potential of CRISPRa-mediated gene therapy to treat ASD resulting from Scn2a loss-of-function variants and potentially other haploinsufficient genetic mutations.

Restoring FMRP in a mouse model of fragile X syndrome

The symptoms of fragile X syndrome stem from the loss of a single protein, raising the possibility that reintroducing FMRP could counter the key problems that lead to disrupted signal processing and aberrant behaviors. Turner is proposing a new means to reintroduce a short active fragment of FMRP back into central neurons in the Fmrp1 knockout mouse model to assess its potential utility as a therapeutic strategy to restore circuit and behavioral function in fragile X syndrome.