Phenotypes Associated with This Genotype

Genotype
MGI:6287231

• Allelic Composition: Hepacam^tm1Vlcg/Hepacam^tm1Vlcg
• Genetic Background: Not Specified

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

homeostasis/metabolism

cerebral edema ( J:244698 )

nervous system

cerebral edema ( J:244698 )

increased brain size ( J:244698 )

• mice develop megalencephaly from 3 months of age

• brain wet weight is higher from 3 weeks of age and increases up to 12 months, however brain dry weight is normal

brain vacuoles ( J:244698 )

• mice develop early white matter vacuolization that is already prominent at 3 weeks in the cerebellum and increases with age

• white matter vacuoles are also seen in the corpus callosum but in smaller numbers and size

• however, mice exhibit normal myelination and myelin maintenance

abnormal astrocyte morphology ( J:244698 )

• perivascular astrocytes exhibit thicker cell processes abutting blood vessels, indicating swollen endfeet

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
megalencephalic leukoencephalopathy with subcortical cysts		DOID:0080315	OMIM:PS604004	J:244698