Phenotypes Associated with This Genotype

Genotype
MGI:5882127

• Allelic Composition: Tg(CMV-Tsc2*)1Arbi/0
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal motor learning ( J:179850 )

• mice exhibit a mild, but significantly reduced latency to fall in consecutive trials on day two on the rotarod compared to wild-type mice, indicating a modest impairment in motor learning skills

• however, mice do not exhibit enhanced repetitive behaviors, show normal reversal learning tasks in water-based Y maze, normal associative fear learning and normal long-lasting contextual fear memory, and normal sensorimotor gating

• mice exhibit normal spatial learning in the Morris water maze but a mild impairment on the last day of acquisition and mice have a preference for the target quadrant, indicating normal spatial memory

abnormal social investigation ( J:179850 )

• in a reciprocal social interaction task, mice spend less time interacting with a conspecific mouse compared to wild-type mice

abnormal response to social novelty ( J:179850 )

• in the social preference task, mice have normal preference toward interacting with a novel social target than with a familiar one, however they exhibit a social impairment when challenged 24 hours later in a social novelty test, with mice spending a similar amount of time interacting with both novel and familiar social targets unlike wild-type mice that interact more with the novel social target

• however, mice show habituation to the familiar social target, showing a decrease in interaction with this target 24 hours after initial interaction and normal behavior in the novel object recognition task

integument

abnormal dermal layer morphology ( J:96943 )

• mice develop a fibrovascular collagenoma in the dermis that resembles Shagreen patch in patients with tuberous sclerosis

increased skin hamartoma incidence ( J:96943 )

• fibrovascular proliferation at the junction between the dermis and muscle and this collagenous proliferation is rich in mast cells

neoplasm

increased hamartoma incidence ( J:96943 )

• mice show numerous small subpial aggregates of external granule cells in the cerebellum that fail to migrate to the appropriate site resembling brain hamartoma

increased skin hamartoma incidence ( J:96943 )

• fibrovascular proliferation at the junction between the dermis and muscle and this collagenous proliferation is rich in mast cells

nervous system

abnormal cerebellum morphology ( J:96943 )

• mice show aggregates of granular cells at the surface of the cerebellum immediately underneath the pia

• aggregates range in size from 10-25 cells and form linear arrangements along the surface of the molecular layer or as small nodules that extend into the subarachnoid space

reduced long-term depression ( J:182345 )

• mice show impaired hippocampal metabotropic glutamate receptor (mGluR)-dependent long-term depression (LTD)

• mice treated with the MEK inhibitor U0126 show rescue of mGluR-dependent LTD

• however, basal synaptic transmission in hippocampal area CA1, paired-pulse facilitation in the hippocampus using both short and long interpulse intervals, early phase long-term potentiation and late phase long-term potentiation in the hippocampus, and fiber volley amplitude measured with increasing stimulation are unaltered

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tuberous sclerosis		DOID:13515	OMIM:PS191100	J:96943 , J:179850