Phenotypes associated with this allele

• Allele Symbol: Atxn2^tm1.1Aub
• Allele Name: targeted mutation 1.1, Georg Auburger
• Allele ID: MGI:3793867
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atxn2^tm1.1Aub/Atxn2^tm1.1Aub	involves: 129P2/OlaHsd * C57BL/6	MGI:3795530

Genotype
MGI:3795530

hm1

• Allelic Composition: Atxn2^tm1.1Aub/Atxn2^tm1.1Aub
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:135320 )

• fewer than expected homozygotes are born and many fewer female mice than expected are born

reproductive system

reduced fertility ( J:135320 )

• mice produce fewer, smaller litters than wild-type mice

decreased litter size ( J:135320 )

homeostasis/metabolism

increased insulin secretion ( J:135320 )

• at 6 months of age

• however, no inflammatory infiltrate is associated with the increased insulin production

decreased circulating glucose level ( J:135320 )

• in female mice at 3 and 6 months of age

increased circulating insulin level ( J:135320 )

• at 6 months of age in male mice and at 3 and 6 months of age in female mice

increased liver glycogen level ( J:135320 )

• at 3 and 6 months of age mice exhibit enhanced glycogen deposition in liver tissue compared to in wild-type mice

abnormal lipid level ( J:135320 )

• mice exhibit a decreased in sphingomyelin and an increase in gangliosides in the cerebellum compared to in wild-type mice

increased circulating cholesterol level ( J:135320 )

growth/size/body

increased susceptibility to weight gain ( J:135320 )

• on a normal diet, male mice weight is elevated 18% at 3 months and 34% at 6 months compared to wild-type mice

• female mice exhibit obesity on a normal diet

• however, food consumption is normal

adipose tissue

increased gonadal fat pad weight ( J:135320 )

• gonadal fat pad weights are increased 2.4-fold compared to in wild-type mice

liver/biliary system

increased liver glycogen level ( J:135320 )

• at 3 and 6 months of age mice exhibit enhanced glycogen deposition in liver tissue compared to in wild-type mice

hepatic steatosis ( J:135320 )

• at 3 and 6 months of age

behavior/neurological

hyperactivity ( J:135320 )

• young mice are hyperactive

endocrine/exocrine glands

increased pancreatic beta cell number ( J:135320 )

pancreatic islet hyperplasia ( J:135320 )

increased insulin secretion ( J:135320 )

• at 6 months of age

• however, no inflammatory infiltrate is associated with the increased insulin production