Phenotypes Associated with This Genotype

Genotype
MGI:3720676

• Allelic Composition: Tg(DMD-APP*)7Neve/0
• Genetic Background: involves: C57BL/6 * SJL

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

nervous system

abnormal microglial cell morphology ( J:100978 )

• greatly increased numbers of microglial cells containing phagocytic debris are seen in the hippocampus of 18-24 month-old mice

amyloid beta deposits ( J:100978 , J:105050 )

• brains of 4-month old mice have abnormal intraneuronal aggregates of Abeta peptide 1-42 immunoreactivity throughout, particularly in the Ammon's horn in the hippocampus compared to pale homogeneous staining in control brains (J:100978)

• presence of Abeta is observed as punctate deposits within neurons having a rounded, compact appearance (J:100978)

• intracellular accumulation of amyloid immunoreactivity is prominent within the hilar region of the hippocampus, with strong reactivity in the pyramidal cell layer of Ammon's horn with immunoreactivity extending beyond the cell body in punctate deposits in short, somewhat curly abnormal-appearing fibers (J:100978)

• in hippocampal pyramidal cells in transgenic mouse brains, immunoreactivity to F5 which is specific for for the 9 carboxy terminal APP amino acids extends beyond the some into the neuronal processes in contrast to controls where F5 is distributed uniformly throughout the neuronal somata; pyramidal cells stain densely in the neuropil in transgenic brains, and F5 reactivity is observed in larger accumulations in the soma compared to wild-type mice (J:100978)

• brains of 4-month old mice have abnormal intraneuronal immunoreactivity to Abeta peptide 1-42 throughout, compared to pale homogeneous staining in control brains (J:105050)

• Abeta peptide is most strongly detected in the neurons of the hippocampus, most prominent in the hilus and extending beyond the cell body (J:105050)

• presence is observed as punctate deposits within neurons having a rounded, compact appearance (J:105050)

• larger accumulation of amyloid is observed in soma of neurons, and dense staining is observed in the neuropil (J:105050)

abnormal brain morphology ( J:100978 )

• synaptic degeneration is evident throughout the hippocampi of 18-24-month old animals

cerebral amyloid angiopathy ( J:100978 )

• amyloid accumulates in or around cerebral blood vessels in transgenic animals

abnormal hippocampus morphology ( J:100978 )

• aberrant accumulations of intermediate filaments are found in the hippocampal formation in 11-month old transgenic mice

abnormal hippocampus pyramidal cell morphology ( J:100978 )

• in 18-24 month-old mice, numerous large lucent pyramidal neurons containing irregular cytoplasmic accumulations of atypical secondary lysosomes are observed; in 18-24 month-old mice, such neurons are much more numerous in brains of transgenic mice, and include granule cell neurons

hippocampal neuron degeneration ( J:100978 )

• hippocampi contain numerous degenerating pyramidal and granule cells

abnormal neuron morphology ( J:100978 , J:105050 )

• in 1-year old mice, numerous granule and pyramidal neuronal somata and processes contain secondary lysosomal inclusions which are not seen in control brains, or in other regions of brain or spinal cord (J:100978)

• robust punctate transgene expression is observed in short, curly abnormal appearing fibers in the stratum radiatum of the CA2/3 region of the hippocampus (J:105050)

abnormal axon morphology ( J:100978 )

• aberrant accumulations of intermediate filaments are particularly noticeable in axonal processes

neurodegeneration ( J:100978 )

• in brains of mice 18-24 months of age, advancing neurodegeneration which probably began at ~1 year of age is observed

hematopoietic system

abnormal microglial cell morphology ( J:100978 )

• greatly increased numbers of microglial cells containing phagocytic debris are seen in the hippocampus of 18-24 month-old mice

immune system

abnormal microglial cell morphology ( J:100978 )

• greatly increased numbers of microglial cells containing phagocytic debris are seen in the hippocampus of 18-24 month-old mice

homeostasis/metabolism

amyloidosis ( J:100978 , J:105050 )

amyloid beta deposits ( J:100978 , J:105050 )

• brains of 4-month old mice have abnormal intraneuronal aggregates of Abeta peptide 1-42 immunoreactivity throughout, particularly in the Ammon's horn in the hippocampus compared to pale homogeneous staining in control brains (J:100978)

• presence of Abeta is observed as punctate deposits within neurons having a rounded, compact appearance (J:100978)

• intracellular accumulation of amyloid immunoreactivity is prominent within the hilar region of the hippocampus, with strong reactivity in the pyramidal cell layer of Ammon's horn with immunoreactivity extending beyond the cell body in punctate deposits in short, somewhat curly abnormal-appearing fibers (J:100978)

• in hippocampal pyramidal cells in transgenic mouse brains, immunoreactivity to F5 which is specific for for the 9 carboxy terminal APP amino acids extends beyond the some into the neuronal processes in contrast to controls where F5 is distributed uniformly throughout the neuronal somata; pyramidal cells stain densely in the neuropil in transgenic brains, and F5 reactivity is observed in larger accumulations in the soma compared to wild-type mice (J:100978)

• brains of 4-month old mice have abnormal intraneuronal immunoreactivity to Abeta peptide 1-42 throughout, compared to pale homogeneous staining in control brains (J:105050)

• Abeta peptide is most strongly detected in the neurons of the hippocampus, most prominent in the hilus and extending beyond the cell body (J:105050)

• presence is observed as punctate deposits within neurons having a rounded, compact appearance (J:105050)

• larger accumulation of amyloid is observed in soma of neurons, and dense staining is observed in the neuropil (J:105050)

cerebral amyloid angiopathy ( J:100978 )

• amyloid accumulates in or around cerebral blood vessels in transgenic animals

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:100978 , J:105050