Details

Autor(en) / Beteiligte

• Balemans, Monique C.M.
• Huibers, Manon M.H.
• Eikelenboom, Nathalie W.D.
• Kuipers, Arthur J.
• van Summeren, Rik C.J.
• Pijpers, Michael M.C.A.
• Tachibana, Makoto
• Shinkai, Yoichi
• van Bokhoven, Hans
• Van der Zee, Catharina E.E.M.

Titel

Reduced exploration, increased anxiety, and altered social behavior: Autistic-like features of euchromatin histone methyltransferase 1 heterozygous knockout mice

Ist Teil von

• Behavioural brain research, 2010-03, Vol.208 (1), p.47-55

Ort / Verlag

Shannon: Elsevier B.V

Erscheinungsjahr

2010

Quelle

MEDLINE

Beschreibungen/Notizen

• The 9q34.3 subtelomeric deletion syndrome is a newly defined mental retardation syndrome, caused by haplo-insufficiency of the euchromatin histone methyltransferase 1 (EHMT1) gene. Patients also have childhood hypotonia, facial dysmorphisms, delay in reaching developmental milestones, and behavioral problems like aggressive outbursts, hypoactivity, or autistic-like features. Male and female heterozygous Ehmt1 knockout mice (Ehmt1+/−, aged 1–20 months, kept on a C57BL/6J background), were used to investigate whether they mimic the patients behavioral characteristics by comparing their behavior to wildtype littermates. The Ehmt1+/− mice revealed reduced activity and exploration, with increased anxiety compared to wildtype mice when exposed to novel environments in the open field, object exploration, marble burying, light-dark box, mirrored chamber and T-maze tests. They also demonstrated diminished social play when encountering a mouse from a different litter, and a delayed or absent response to social novelty when exposed to a stranger mouse. However, no differences in phenotyper home cage locomotor activity or rotarod motor function were observed between Ehmt1+/− and wildtype mice. Together, these results indicate that the hypoactivity and the autistic-like features of 9q34.3 subtelomeric deletion syndrome patients are recapitulated in this Ehmt1+/− mouse model, and that the hypoactivity is apparently not caused by any motor dysfunction. Together, these observations make it plausible that the Ehmt1+/− mouse is a faithful mammalian model for the autistic-like behavioral features of patients with the 9q34.3 subtelomeric deletion syndrome.