Phenotypes associated with this allele

• Allele Symbol: Pgam5^{tm1a(EUCOMM)Wtsi}
• Allele Name: targeted mutation 1a, Wellcome Trust Sanger Institute
• Allele ID: MGI:4432458
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pgam5^tm1a(EUCOMM)Wtsi/Pgam5^tm1a(EUCOMM)Wtsi	involves: C57BL/6N	MGI:5751227

Genotype
MGI:5751227

hm1

• Allelic Composition: Pgam5^{tm1a(EUCOMM)Wtsi}/Pgam5^{tm1a(EUCOMM)Wtsi}
• Genetic Background: involves: C57BL/6N
• Cell Lines: EPD0226_5_A02

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

behavior/neurological

abnormal motor coordination/balance ( J:225345 )

• increased time to their bodies 180 degrees in the vertical pole test

• however, mice exhibit normal time to descend a vertical pole and performance on a rotarod

akinesia ( J:225345 )

• increased time to move all four limbs in the akinesia test

abnormal gait ( J:225345 )

• short stride length, increased stride frequency and increased step angle variability

short stride length ( J:225345 )

decreased vertical activity ( J:225345 )

bradykinesia ( J:225345 )

• decreased locomoter activity, shorter time mobile and decreased distance traveled in an open-field test

• increased traversal time to cross a horizontal ladder

• however, treatment with L-DOPA increases motility

cellular

abnormal mitochondrial morphology ( J:225345 )

• swollen and bulbous with no normal cristae and non-descript granular debris in mouse embryonic fibroblast

• however, mitochondria morphology in heart tissue is normal

abnormal mitochondrial crista morphology ( J:225345 )

abnormal mitochondrial physiology ( J:225345 )

oxidative stress ( J:225345 )

• elevated reactive oxygen species in mouse embryonic fibroblasts

nervous system

loss of dopaminergic neurons ( J:225345 )

neuron degeneration ( J:225345 )

• significant loss of TH+ and Nissl stained neurons at 12 months in the substantia nigra pars compacta

• however, ventral tegmental area neuron numbers is normal and no neurodegeneration is detected in the cortex, hippocampus and cerebellum

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:225345 )

N • mice exhibit normal serotonin levels

decreased dopamine level ( J:225345 )

• starting at 2 months

• significant at 12 months with reduced dihydroxyphenylacetic acid levels

• however, 3-methoxytyramine and homovanillic acid levels are normal