Phenotypes associated with this allele

• Allele Symbol: Atp13a2^tm1Pjsch
• Allele Name: targeted mutation 1, Patrick Schultheis
• Allele ID: MGI:5472135
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp13a2^tm1Pjsch/Atp13a2^tm1Pjsch	involves: 129S6/SvEvTac * Black Swiss	MGI:5472145

Genotype
MGI:5472145

hm1

• Allelic Composition: Atp13a2^tm1Pjsch/Atp13a2^tm1Pjsch
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

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

behavior/neurological

behavior/neurological phenotype ( J:194306 )

N • mice exhibit normal forelimb stepping, rearing, grooming, locomotor activity and anxiety-related behaviors

abnormal spatial learning ( J:194306 )

• in a Morris water maze, mice find the hidden platform faster than wild-type mice at day 2 and 3

abnormal response to novel object ( J:194306 )

• at 13 to 17 months, mice spend more time exploring objects during familiarization and recognition phases compared with wild-type mice

• mice take less time to walks outside of the square containing the object compared with wild-type mice

abnormal motor coordination/balance ( J:194306 )

• at 20 to 29 months of age, mice on a bean traverse challenge take more steps and make more errors while traversing the beam compared with wild-type mice

• at 20 to 29 months of age, mice exhibit decreased hindlimb stepping compared with wild-type mice

• swimming speed is increased compared to in wild-type mice

• however, performance on a beam at 5 to 12 months is normal

abnormal gait ( J:194306 )

• unsteady at 2 years

• male, but not female, mice exhibit more variable stride lengths compared with wild-type mice

short stride length ( J:194306 )

• at 20 to 29 months of age

abnormal nest building behavior ( J:194306 )

• mice use less cotton in nest building compared with wild-type mice

nervous system

nervous system phenotype ( J:194306 )

N • mice exhibit normal striatal dopamine content in the brain

abnormal neuron morphology ( J:194306 )

• at 18 months, accumulation of intraneuronal storage material (lipofuscin) in the cerebellum, hippocampus and to a lesser extent the cortex is accelerated compared to in wild-type mice

alpha-synuclein inclusion body ( J:194306 )

• in the hippocampus

pigmentation

lipofuscinosis ( J:194306 )

• at 18 months, accumulation of intraneuronal storage material (lipofuscin) in the cerebellum, hippocampus and to a lesser extent the cortex is accelerated compared to in wild-type mice