Phenotypes Associated with This Genotype

Genotype
MGI:4946419

• Allelic Composition: Aqp4^tm1.1Lmno/Aqp4^tm1.1Lmno
• Genetic Background: B6.Cg-Aqp4^tm1.1Lmno

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

nervous system

abnormal blood-brain barrier function ( J:177412 )

• basal brain water content is increased compared to in wild-type mice

cerebral edema ( J:193622 )

• mutants infected with P. berghei ANKA show greater brain water content than infected wild-type mice, despite a similar level of blood-brain barrier disruption

abnormal astrocyte physiology ( J:168686 )

• under 20% reduced osmolarity, astrocytes exhibit decreased increase in soma volume compared with similarly treated wild-type cells

• following water injection, astrocytes exhibit impaired calcium response and ATP release compared with similarly treated wild-type cells

• however, soma volume increase under a 30% reduction in osmolarity is normal

cardiovascular system

abnormal blood-brain barrier function ( J:177412 )

• basal brain water content is increased compared to in wild-type mice

homeostasis/metabolism

cerebral edema ( J:193622 )

• mutants infected with P. berghei ANKA show greater brain water content than infected wild-type mice, despite a similar level of blood-brain barrier disruption

immune system

increased susceptibility to parasitic infection ( J:193622 )

• mice infected with Plasmodium berghei ANKA exhibit an earlier appearance of cerebral malaria than wild-type mice, showing reduced mobility, ruffled coat, hunched back, or coma, and increased width of perivascular astrocyte end-feet

• mutants infected with P. berghei ANKA show greater brain water content than infected wild-type mice, despite a similar level of blood-brain barrier disruption

increased susceptibility to parasitic infection induced morbidity/mortality ( J:193622 )

• by the 6th day following P. burghei ANKA infection, mutants show a greater reduction in survival than infected wild-type mice (about 32% survival versus about 86% survival in wild-type mice)

• administration of chloroquine beginning on the morning of day 6 of P. burghei ANKA infection, results in only a 20% survival of mutants compared to 70% survival in wild-type mice by day 15 of treatment

mortality/aging

increased susceptibility to parasitic infection induced morbidity/mortality ( J:193622 )

• by the 6th day following P. burghei ANKA infection, mutants show a greater reduction in survival than infected wild-type mice (about 32% survival versus about 86% survival in wild-type mice)

• administration of chloroquine beginning on the morning of day 6 of P. burghei ANKA infection, results in only a 20% survival of mutants compared to 70% survival in wild-type mice by day 15 of treatment

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
malaria		DOID:12365		J:193622