Phenotypes Associated with This Genotype

Genotype
MGI:5433613

• Allelic Composition: Pin1^tm1Tuc/Pin1^tm1Tuc; Tg(APPSWE)2576Kha/0
• Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6 * SJL

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

nervous system

amyloid beta deposits ( J:107132 )

• levels of insoluble amyloid beta, especially amyloid beta42, are increased by 46% at 6 months of age compared to single Tg(APPSWE)2576Kha hemizygous controls

• however, levels of soluble amyloid beta40 and amyloid beta42 are not affected

• amyloid beta42 predominately accumulates in multivesicular bodies of neurons

• levels of total APPs and beta-APPs are increased by about 3-fold, but levels of alpha-APPs are reduced by about 50% compared to single Tg(APPSWE)2576Kha hemizygous controls, indicating an increase in amyloidogenic versus non-amyloidogenic APP processing and thus elevation of the amyloid beta42

homeostasis/metabolism

amyloid beta deposits ( J:107132 )

• levels of insoluble amyloid beta, especially amyloid beta42, are increased by 46% at 6 months of age compared to single Tg(APPSWE)2576Kha hemizygous controls

• however, levels of soluble amyloid beta40 and amyloid beta42 are not affected

• amyloid beta42 predominately accumulates in multivesicular bodies of neurons

• levels of total APPs and beta-APPs are increased by about 3-fold, but levels of alpha-APPs are reduced by about 50% compared to single Tg(APPSWE)2576Kha hemizygous controls, indicating an increase in amyloidogenic versus non-amyloidogenic APP processing and thus elevation of the amyloid beta42

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:107132