Tag: mouse models

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.

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.

Alternations in network communication, not synaptic dysfunction, linked to behavioral alterations in fragile X syndrome

Assessing network and synaptic communication in the hippocampus of behaving Fmr-1 null mice, André Fenton and colleagues showed altered network communication linked to behavioral alterations in fragile X syndrome.

Alterations in cellular pH gradients cause defects in neuronal communication and autism-related behaviors in mice lacking NHE9

Using a mouse lacking brain-localized NHE9, Edwards shows that pH gradients affect neuronal communication and autism-like behaviors.

Male, but not female, 16p11.2 deletion mice show deficits in reward learning

By assessing the 16p11.2 deletion autism mouse model, Ted Abel and colleagues uncover male-specific vulnerabilities in striatal signaling and reward function.

SFARI 2017 Explorer awardees announced

SFARI is pleased to announce that it has awarded 13 grants in response to the Explorer Awards request for applications this year.

Maternal gut bacteria provide a link between maternal infection and autism risk

Jun Huh, Gloria Choi and colleagues provide a link between maternal infection, gut bacteria and the risk of developing behavioral and cortical abnormalities in mice.