Phenotypes Associated with This Genotype

Genotype
MGI:5604616

• Allelic Composition: Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas/0
• Genetic Background: B6SJL-Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas/Mmjax

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

homeostasis/metabolism

amyloid beta deposits ( J:214858 )

• retinal amyloid beta accumulates in the retinal pigment epithelial (RPE) layer and amyloid beta deposits are seen beneath the RPE layer

nervous system

amyloid beta deposits ( J:214858 )

• retinal amyloid beta accumulates in the retinal pigment epithelial (RPE) layer and amyloid beta deposits are seen beneath the RPE layer

pigmentation

abnormal retina pigment epithelium morphology ( J:214858 )

• abundant intracellular amyloid beta is seen in the cytosol of RPE and with increasing intracellular accumulation of amyloid beta, tight junction integrity is attenuated and disorganized

abnormal retina pigmentation ( J:214858 )

• 12 month old mutants show hypopigmentation in the RPE layer

vision/eye

abnormal eye morphology ( J:214858 )

• drusen-like deposit is seen between the retinal pigment epithelium (RPE) layer and Bruch membrane in 12 month old mutants

abnormal retina morphology ( J:214858 )

• large vacuoles are seen in the retina of 12 month old mutants

abnormal retina pigment epithelium morphology ( J:214858 )

• abundant intracellular amyloid beta is seen in the cytosol of RPE and with increasing intracellular accumulation of amyloid beta, tight junction integrity is attenuated and disorganized

abnormal retina pigmentation ( J:214858 )

• 12 month old mutants show hypopigmentation in the RPE layer

abnormal Bruch membrane morphology ( J:214858 )

• thickened Bruch membrane is seen in the retina of 12 month old mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:214858