Phenotypes Associated with This Genotype

Genotype
MGI:3622153

• Allelic Composition: Aaas^tm1Ahue/Aaas^tm1Ahue
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

reproductive system

female infertility ( J:106908 )

♀ • females, but not males, are infertile; however follicular development and ovulation appear to be normal

behavior/neurological

decreased exploration in new environment ( J:106908 )

• slight decrease in exploratory behavior for males in a light-dark transition assay and females during a wire hang task; however grip strength is normal and the total number of light dark transitions is similar to wild-type

abnormal motor coordination/balance ( J:106908 )

• at 10 weeks of age, males fall of a rotating rod sooner than wild-type; however no significant difference is seen at any other age or in females at the same age

decreased locomotor activity ( J:106908 )

• slightly less active in an open field; however, in a viewing jar and arena behavior appears normal and no abnormal reflexes are detected

growth/size/body

decreased body weight ( J:106908 )

• decreased body weight at 8 and 10 weeks of age in female and male homozygotes, respectively

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:106908 )

N • histology of the adrenal gland, pituitary gland, ovary and testes appears normal

cellular

cellular phenotype ( J:106908 )

N • nuclear pore complex structure and function in the liver, kidney and MEFs appears normal

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:106908 )

N • plasma levels of adrenocorticotropic hormone and corticosterone are similar to wild-type

nervous system

nervous system phenotype ( J:106908 )

N • peripheral nerve histology appears normal

digestive/alimentary system

digestive/alimentary phenotype ( J:106908 )

N • histology of the esophagus appears normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	triple-A syndrome	DOID:0050602	OMIM:231550	J:106908