Phenotypes Associated with This Genotype

Genotype
MGI:5014041

• Allelic Composition: Cav1^tm1Mls/Cav1^tm1Mls
• Genetic Background: Not Specified

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

nervous system

abnormal brain vasculature morphology ( J:168335 )

• 20-25% reduction in cerebrovascular volume is observed in the hippocampi from young mice

amyloid beta deposits ( J:168335 )

• amyloid beta production is increased in the hippocampus of young mice

abnormal hippocampus CA1 region morphology ( J:168335 )

• young (3-6 months) mice exhibit a reduction in the number of neurons in the CA1 region

• young mice exhibit areas of potential plaque development and disorganized astrocytes

• Fluoro-Jade B and Nissl staining of the CA1 region from 12 month old mice indicates increased neuronal degeneration as compared to age-matched controls

abnormal dentate gyrus morphology ( J:168335 )

• young (3-6 months) mice exhibit a reduction in the number of neurons within the dentate gyrus

• increase in glia and glial scar formation within the dentate gyrus

hippocampal neuron degeneration ( J:168335 )

• Fluoro-Jade B and Nissl staining of the CA1 region from 12 month old mice indicates increased neuronal degeneration as compared to age-matched controls

tau protein deposits ( J:168335 )

• tau deposits are elevated in hippocampal homogenates from young mice

abnormal CNS glial cell morphology ( J:168335 )

• increase in glia and glial scar formation within the dentate gyrus

abnormal astrocyte morphology ( J:168335 )

• astrocytes in young mice are disorganized as compared to young wild-type mice

astrocytosis ( J:168335 )

decreased CNS synapse formation ( J:168335 )

• young mice exhibit a significant reduction in hippocampal synapses in comparison to age-matched wild-type mice, but similar to aged wild-type mice

abnormal dendrite morphology ( J:168335 )

• cytoskeletal architecture within dendrites is unorganized

brain ischemia ( J:168335 )

• young mice subjected to ischemic preconditioning prior to lethal ischemia lack the ability to protect CA1 neurons, a phenomenon observed in aged wild-type mice

cardiovascular system

abnormal brain vasculature morphology ( J:168335 )

• 20-25% reduction in cerebrovascular volume is observed in the hippocampi from young mice

homeostasis/metabolism

amyloid beta deposits ( J:168335 )

• amyloid beta production is increased in the hippocampus of young mice

cellular

abnormal cell cytoskeleton morphology ( J:168335 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:168335