Phenotypes associated with this allele

• Allele Symbol: Mlc1^tm1.1Vdk
• Allele Name: targeted mutation 1.1, Marjo S van der Knaap
• Allele ID: MGI:6105932
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mlc1^tm1.1Vdk/Mlc1^tm1.1Vdk	involves: C57BL/6	MGI:6105933

Genotype
MGI:6105933

hm1

• Allelic Composition: Mlc1^tm1.1Vdk/Mlc1^tm1.1Vdk
• Genetic Background: involves: C57BL/6

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

homeostasis/metabolism

cerebral edema ( J:250520 )

• increase in brain water content by 3 months of age

• intramyelinic edema develops from 3 months of age

nervous system

cerebral edema ( J:250520 )

• increase in brain water content by 3 months of age

• intramyelinic edema develops from 3 months of age

increased brain size ( J:250520 )

• mice develop megalencephaly with increased brain water content by 3 months of age

increased brain weight ( J:250520 )

• brain wet weight is higher at 3 weeks of age and increases with time until reaching a plateau at 7 months and slightly decreases afterwards

brain vacuoles ( J:244698 , J:250520 )

• mice exhibit progressive white matter vacuolization, with large vacuoles throughout the white matter from 3 months of age (J:250520)

• vacuoles increase in number and size with age, with vacuolization most prominent in the cerebellum (J:250520)

abnormal astrocyte morphology ( J:244698 , J:250520 )

• perivascular astrocytes exhibit thicker cell processes abutting blood vessels at P21, have swollen bodies and enlarged endfeet (J:250520)

• however, reactive astrocytes are not seen (J:250520)

abnormal myelin sheath morphology ( J:250520 )

• splitting of myelin lamellae occurs along the intraperiod line due to vacuoles

• however, mice exhibit normal developmental myelination and myelin maintenance

abnormal astrocyte physiology ( J:250520 )

• astrocytes show decreased anion currents and current density in isotonic conditions

• in hypotonic conditions, astrocytes show higher swelling-induced current density than controls

• tamoxifen treatment has no effect on swelling-activated currents in mutants compared to controls in which it blocks the currents

• astrocytes exposed to anion-selective hypotonic solution exhibit a slower regulatory volume decrease

behavior/neurological

behavior/neurological phenotype ( J:250520 )

N • mice perform similarly to controls in the rotarod, grip strength test, and balance beam test and show normal spontaneous motor activity in the open field

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
megalencephalic leukoencephalopathy with subcortical cysts 1		DOID:0080316	OMIM:604004	J:244698 , J:250520