Phenotypes Associated with This Genotype

Genotype
MGI:5755045

• Allelic Composition: Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas/Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas
• Genetic Background: B6.Cg-Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas/Mmjax

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

behavior/neurological

impaired spatial learning ( J:229382 )

♀ • impaired acquisition in 2 and 5 month old females; escape latencies increase over 5 days of training

abnormal spatial reference memory ( J:229382 )

♀ • impaired spacial reference memory in 5 month old females

decreased anxiety-related response ( J:229382 )

♀ • increased open to total arm entry ratio in 2 and 5 month old females

♀ • loss of normal anxiety phenotype

limb grasping ( J:229382 )

♀ • increased clasping behavior during tail suspension in 5 month old females

impaired balance ( J:229382 )

• impairment in balance and general motor coordination in 5 month old females as measured by the balance beam

• 9 month old males either remain still on balance beam or fall off due to hind limb paresis

• poor performance in string suspension paradigm as compared to wild-type and female hemizygotes at 5 months of age

impaired coordination ( J:229382 )

• impairment in balance and general motor coordination in 5 month old females as measured by the balance beam

impaired swimming ( J:229382 )

♀ • decreased average swimming speed during cued training in 5 month old females, however no difference in day 3 escape latency

abnormal posture ( J:229382 )

♂ • postural abnormalities observed in 9 month old males

paresis ( J:229382 )

♂ • hind limb paresis in 9 month old males

pup cannibalization ( J:229382 )

♀ • in females older than 5 months of age

growth/size/body

decreased body weight ( J:229382 )

♀ • reduced body weight in 2 and 5 month old females

cachexia ( J:229382 )

♂ • wasting observed in 9 month old males

homeostasis/metabolism

amyloid beta deposits ( J:229382 )

• increased plaque load in cortex, hippocampus and thalamus at 2 (females), 5 (females) and 9 (males) months

• increase in plaque load in spinal cord of 9 month old males

• increased TBS-soluble Abeta_1-42 and Abeta_1-40 levels at 2 and 5 months (females) as compared to hemizygotes

• increased SDS-soluble Abeta_1-42 levels at 2 and 5 months (females) as compared to hemizygotes

• increased extracellular plaque load and intracellular Abeta immunoreacitivy in large spinal cord neurons in 9 month old males

nervous system

amyloid beta deposits ( J:229382 )

• increased plaque load in cortex, hippocampus and thalamus at 2 (females), 5 (females) and 9 (males) months

• increase in plaque load in spinal cord of 9 month old males

• increased TBS-soluble Abeta_1-42 and Abeta_1-40 levels at 2 and 5 months (females) as compared to hemizygotes

• increased SDS-soluble Abeta_1-42 levels at 2 and 5 months (females) as compared to hemizygotes

• increased extracellular plaque load and intracellular Abeta immunoreacitivy in large spinal cord neurons in 9 month old males

axonal spheroids ( J:229382 )

♂ • increase in axonal swellings in pons and gray matter of spinal cord of 9 month old male homozygotes as compared to hemizygotes

reproductive system

decreased litter size ( J:229382 )

♀ • in females older than 5 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:229382