Phenotypes associated with this allele

• Allele Symbol: Pink1^tm1Shn
• Allele Name: targeted mutation 1, Jie Shen
• Allele ID: MGI:3716083
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pink1^tm1Shn/Pink1^tm1Shn	B6.129S4-Pink1^tm1Shn/J	MGI:8407903
hm2	Pink1^tm1Shn/Pink1^tm1Shn	involves: 129S4/SvJae * C57BL/6	MGI:3716639

Genotype
MGI:8407903

hm1

• Allelic Composition: Pink1^tm1Shn/Pink1^tm1Shn
• Genetic Background: B6.129S4-Pink1^tm1Shn/J

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

homeostasis/metabolism

increased protein level ( J:390197 )

• 2-month-old mice show a significant increase of PRKN (parkin RBR E3 ubiquitin protein ligase) protein levels in the heart, brain and retina

• however, protein levels of MTFR1L (mitochondrial fission regulator 1-like) and TIM23 (translocase of inner mitochondrial membrane 23) remain unchanged in these tissues

Genotype
MGI:3716639

hm2

• Allelic Composition: Pink1^tm1Shn/Pink1^tm1Shn
• Genetic Background: involves: 129S4/SvJae * C57BL/6

nervous system

abnormal nervous system physiology ( J:122728 )

• catecholamine release is lower than in wild-type mice

reduced long-term potentiation ( J:122728 )

• long term potential (LTP) induced by high frequency stimulation in the absence of magnesium is lower than in wild-type mice

• however, LTP can be rescued using D1 receptor-like agonists

reduced long-term depression ( J:122728 )

• long term depression (LTD) is impaired

• however, LTD can be rescued using D1 and D2 agonists and amphetamine

homeostasis/metabolism

decreased dopamine level ( J:122728 )

• the mean evoked dopamine overflow is significantly decreased in striatal slices from 2 to 3 month old mice compared to wild-type

• release of dopamine is decreased

• however, the number of D1 and D2 receptors is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Parkinson's disease 6		DOID:0060369	OMIM:605909	J:122728