Exon 2 of the tuberous sclerosis 2 gene (<i>Tsc2</i>) has been replaced by a neo cassette, abolishing gene expression.  TSC2 is a putative tumor supressor. Mutation of TSC2 have been associated with the onset of tuberous sclerosis complex (TSC) which is characterized by the formation of non-malignant tumors in many different organs.  Heterozygous (Tsc2+/-) mice are viable and fertile. Homozygous (Tsc2-/-) mice have an embryonic lethal phenotype, failing to develop past embryonic days 9.5 to 12.5 due to hepatic hypoplasia. Cultured neuroepithelial progenitor cells isolated from embryonic day 10.5 embryos display abnormal growth and differentiation. All heterozygotes develop multiple bilateral renal cystadenomas by 12-15 months of age. By 15 months, about half develop liver hemangiomas (more common in females than in males). Less than 10% develop extremity angiosarcomas or renal carcinoma. Little or no gene product (protein) is detected by Western blot in renal cystadenomas. PCR analysis reveals loss of the wildtype allele in about 30% of lesions. Phenotype variability is dependent on genetic background. 
<br>Tsc2 haploinsufficiency causes mTOR hyperactivation:  the subsequent autophagy inhibition results in autism spectrum disorder (ASD)-like basal dendritic spine pathology and social recognition/interaction deficits. Rapamycin treatment rescues the dendritic spine pruning defect and social abnormalities. Tsc2+/- mice do not exhibit stereotyped/repetitive behavior, motor defects or anxiety-like behavior.






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Tsc2+/- mice are useful in studying Tuberous sclerosis. In addition, the mTOR hyperactivation exhibited by Tsc2+/- mice causes impaired basal neuronal autophagy, resulting in autism spectrum disorder (ASD)-like basal dendritic spine pathology and social recognition/interaction deficits.

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