Phenotypes Associated with This Genotype

Genotype
MGI:5629811

• Allelic Composition: Pten^tm1Engc/Pten^tm1Engc
• Genetic Background: involves: CD-1

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

behavior/neurological

impaired balance ( J:210487 )

• latency to fall on the rotarod test is lower across all days, indicating poor balance

• however, mice show similar motor learning as wild-type mice on the accelerating rotarod test

abnormal social investigation ( J:210487 )

♂ • males, but not females, exhibit increases in social motivation, with males showing greater variability in the preference for social novelty part of the three-chamber task, and a greater preference for the social target over non-social target in the amount of time spent in close proximity to the target

♂ • however, mice show normal learning and recognition memory in the three chambered test and in a novel object recognition task, normal exploratory behavior in the open field, indicating no differences in anxiety-like behavior, and no differences in the heat-based tail-flick test indicating normal sensory perception

cellular

increased cell proliferation ( J:210487 )

• mice exhibit increased proliferation in the cerebral cortex and hippocampus at P40

• hyperproliferation of the polydendrocyte (NG2) population within the cortex

growth/size/body

decreased body size ( J:210487 )

♂ • males, but not females, are smaller at P40

nervous system

abnormal microglial cell physiology ( J:210487 )

• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation

increased brain size ( J:210487 )

• megalencephaly

abnormal cerebral hemisphere morphology ( J:210487 )

• cerebrum is larger in both males and females

• however, the hippocampus is not enlarged

abnormal hippocampus granule cell morphology ( J:210487 )

• dentate gyrus granule cells exhibit a 10% increase in soma size

• however, cerebellar granule cells exhibit normal soma size and normal number of cell processes

abnormal hippocampus pyramidal cell morphology ( J:210487 )

• pyramidal cells of hippocampus exhibit a 23% increase in soma size

• however, dendrites of CA1 pyrmaidal cell neurons are normal

abnormal cerebral cortex pyramidal cell morphology ( J:210487 )

• pyramidal cells of the cortex a 26% increase in soma size

enlarged cerebellum ( J:210487 )

increased astrocyte number ( J:210487 )

• increase in the number of astrocytes at P40

astrocytosis ( J:210487 )

• mice exhibit increased GFAP-staining throughout the cortex, indicating astrogliosis

increased oligodendrocyte number ( J:210487 )

• increase in the number of oligodendrocytes at P40

immune system

abnormal microglial cell physiology ( J:210487 )

• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation

hematopoietic system

abnormal microglial cell physiology ( J:210487 )

• microglia in the cerebral cortex and hippocampus show thicker and enlarged cell bodies, indicating microglial activation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
macrocephaly-autism syndrome		DOID:0060867	OMIM:605309	J:210487