Phenotypes Associated with This Genotype

Genotype
MGI:5550547

• Allelic Composition: Tg(NEFL-APP)#Nalb/0
• Genetic Background: involves: C57BL/6 * C3H

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

behavior/neurological

impaired spatial learning ( J:80639 )

• in the Morris water maze, 8 month old mutants are slower to find the hidden platform than wild-type mice and find the hidden platform within the allotted time less frequently than controls indicating impaired spatial learning

• absence of spatial bias during the reversal trial, with mutants swimming randomly and thus finding the new platform location more quickly than controls which persistently swim to the former platform location

• mutants swim faster and longer distances but with less spatial accuracy than controls during the Morris water maze

• however, mutants perform normally in the visible platform test indicating normal cued learning

nervous system

amyloid beta deposits ( J:80639 )

• extracellular beta-amyloid deposition is seen in the cortex and hippocampus at 8-10 months of age

hippocampal neuron degeneration ( J:80639 )

• approximately 20% decrease in cell density in the CA1 region of the hippocampus

loss of hippocampal neurons ( J:80639 )

• total neuron counts are decreased in the hippocampus

gliosis ( J:80639 )

• glial fibrillary acidic protein-positive reactive astrocytes are seen in the hippocampus and cortical regions as early as 4-5 months of age, indicating generalized gliosis

reduced long-term potentiation ( J:80639 )

• progressive decay of long-term potentiation (LTP) with time reduction in the magnitude of synaptic potentiation is seen 10 min after theta burst stimulation and an even greater reduction after 50 min in the hippocampus

• however, paired-pulse facilitation and long-term depression are normal

homeostasis/metabolism

amyloid beta deposits ( J:80639 )

• extracellular beta-amyloid deposition is seen in the cortex and hippocampus at 8-10 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:202532