Phenotypes associated with this allele

• Allele Symbol: Ucp2^tm1Lowl
• Allele Name: targeted mutation 1, Bradford B Lowell
• Allele ID: MGI:2176058
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ucp2^tm1Lowl/Ucp2^tm1Lowl	B6.129S4-Ucp2^tm1Lowl	MGI:6285862
hm2	Ucp2^tm1Lowl/Ucp2^tm1Lowl	involves: 129S4/SvJae * C57BL/6	MGI:3721510

Genotype
MGI:6285862

hm1

• Allelic Composition: Ucp2^tm1Lowl/Ucp2^tm1Lowl
• Genetic Background: B6.129S4-Ucp2^tm1Lowl

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

mortality/aging

moribund ( J:272325 )

• males exhibited moribund signs (and were thus sacrificed) between 4 and 34 months of age

• females became moribund between 6 and 29 months of age

growth/size/body

pancreas cyst ( J:272325 )

• 8 of 142 mice carried pancreatic cysts, never observed in wild-type controls

slow postnatal weight gain ( J:272325 )

• mice gained less body weight as they aged

kidney cyst ( J:272325 )

• 19 of 142 mice that carried liver cysts also had kidney cysts of variable number and size

• incidence of kidney cysts was significantly higher than that in wild-type controls

• no kidney cysts were detected between 3 and 10 months of age

liver cyst ( J:272325 )

• 63 of 142 dissected moribund mice (>12 months of age) exhibited liver cysts of variable number and size

• all mice carrying kidney cysts or pancreatic cysts had liver cysts except one mouse

• no liver cysts were detected between 3 and 10 months of age

liver/biliary system

liver cyst ( J:272325 )

• 63 of 142 dissected moribund mice (>12 months of age) exhibited liver cysts of variable number and size

• all mice carrying kidney cysts or pancreatic cysts had liver cysts except one mouse

• no liver cysts were detected between 3 and 10 months of age

renal/urinary system

kidney cyst ( J:272325 )

• 19 of 142 mice that carried liver cysts also had kidney cysts of variable number and size

• incidence of kidney cysts was significantly higher than that in wild-type controls

• no kidney cysts were detected between 3 and 10 months of age

endocrine/exocrine glands

pancreas cyst ( J:272325 )

• 8 of 142 mice carried pancreatic cysts, never observed in wild-type controls

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:272325 )

N • mice with polycystic livers showed no significant differences in plasma alanine transaminase (ALT) and aspartate transaminase (AST) levels relative to non-diseased mice or wild-type controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
polycystic liver disease		DOID:0050770		J:272325

Genotype
MGI:3721510

hm2

• Allelic Composition: Ucp2^tm1Lowl/Ucp2^tm1Lowl
• Genetic Background: involves: 129S4/SvJae * C57BL/6

cellular

increased susceptibility to dopaminergic neuron neurotoxicity ( J:96713 )

• MPTP treatment results in 62% loss of nigral dopaminergic neurons, approximately double the loss found in wild-type cells

abnormal cellular respiration ( J:96713 )

• in situ measurement indicates an increase in reactive oxygen species production by nigral dopaminergic neurons as compared to control

decreased mitochondrial fission ( J:96713 )

• EM analysis of dopaminergic neurons indicates a decrease in mitochondrial number

nervous system

increased susceptibility to dopaminergic neuron neurotoxicity ( J:96713 )

• MPTP treatment results in 62% loss of nigral dopaminergic neurons, approximately double the loss found in wild-type cells

homeostasis/metabolism

increased susceptibility to dopaminergic neuron neurotoxicity ( J:96713 )

• MPTP treatment results in 62% loss of nigral dopaminergic neurons, approximately double the loss found in wild-type cells

decreased dopamine level ( J:96713 )

• MPTP treatment results in significantly lower dopamine levels in the striatum as compared to control