Phenotypes Associated with This Genotype

Genotype
MGI:6189180

• Allelic Composition: Hivep2^tm1Sis/Hivep2^tm1Sis
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

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

behavior/neurological

increased locomotor activity ( J:234969 )

• mice show increased locomotor activity in the home cage without clear infradian oscillation

nervous system

abnormal dentate gyrus morphology ( J:271912 )

• mice exhibit decreased expression levels of synaptic proteins in the dentate gyrus

abnormal hippocampus granule cell morphology ( J:271912 )

• the granule cell layer of the dentate gyrus shows a decrease in cell body size, a decrease in nuclear volume in granule cells and an increase in neuronal density

abnormal dendritic spine morphology ( J:271912 )

• granule cell dendritic spine diameter and spine neck diameter are lower

• however, spine volume and postsynaptic density area are normal

increased dendritic spine length ( J:271912 )

• granule cell dendritic spine length is increased mainly due to an increase in spine neck length

abnormal dentate gyrus neuron dendrite morphology ( J:271912 )

• mice exhibit thin dendrites with long and thin spines in granule cells in the middle molecular layer of the dorsal dentate gyrus indicating immature dendritic spine morphology

• dendrite diameter of granule cells is decreased

• filamentous mitochondria are seen in the dendritic shaft and the number of constricted mitochondria is decreased while number of elongated mitochondria is normal suggesting that the balance between mitochondrial fusion and fission is compromised

• however, no differences in mitochondria volume, length or number per 1 um of dendritic shaft are seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
intellectual disability		DOID:1059		J:271912
schizophrenia		DOID:5419	OMIM:181500	J:271912