Phenotypes Associated with This Genotype

Genotype
MGI:3771037

• Allelic Composition: Aec1^NOD/Uf/Aec1^NOD/Uf; Aec2^NOD/Uf/Aec2^NOD/Uf
• Genetic Background: B6.NOD-Aec2^NOD/Uf Aec1^NOD/Uf

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

digestive/alimentary system

decreased salivation ( J:128900 , J:129282 , J:129916 )

• decreased salivary flow rate (J:128900)

• 35-40% reduction in salivary flow rate in male (age 5-19 weeks) and female (age 5-22 weeks) animals (J:129282)

• this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM (J:129282)

• 41% decrease in saliva flow at 12 weeks of age (J:129916)

salivary gland inflammation ( J:129282 )

• females displayed more severe sialadenitis compared to males

• this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM

endocrine/exocrine glands

decreased salivation ( J:128900 , J:129282 , J:129916 )

• decreased salivary flow rate (J:128900)

• 35-40% reduction in salivary flow rate in male (age 5-19 weeks) and female (age 5-22 weeks) animals (J:129282)

• this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM (J:129282)

• 41% decrease in saliva flow at 12 weeks of age (J:129916)

salivary gland inflammation ( J:129282 )

• females displayed more severe sialadenitis compared to males

• this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM

lacrimal gland inflammation ( J:129282 )

♂ • severe lacrimal gland lymphocytic infiltration in males

♂ • this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM

homeostasis/metabolism

decreased salivation ( J:128900 , J:129282 , J:129916 )

• decreased salivary flow rate (J:128900)

• 35-40% reduction in salivary flow rate in male (age 5-19 weeks) and female (age 5-22 weeks) animals (J:129282)

• this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM (J:129282)

• 41% decrease in saliva flow at 12 weeks of age (J:129916)

abnormal enzyme/coenzyme activity ( J:128900 )

• reduced amylase activity

immune system

salivary gland inflammation ( J:129282 )

• females displayed more severe sialadenitis compared to males

• this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM

lacrimal gland inflammation ( J:129282 )

♂ • severe lacrimal gland lymphocytic infiltration in males

♂ • this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM

increased susceptibility to autoimmune disorder ( J:128900 )

• susceptibility to autoimmune Sjogren-like syndrome

increased anti-nuclear antigen antibody level ( J:129282 )

• males display increased serum anti-nuclear antibodies as early as 5 weeks of age

• females display increased serum anti-nuclear antibodies at 10 weeks of age

• this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM

vision/eye

lacrimal gland inflammation ( J:129282 )

♂ • severe lacrimal gland lymphocytic infiltration in males

♂ • this phenotype was observed in congenic animals with a refined Aec1 locus spanning from the centromere to 19.5 cM

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren's syndrome		DOID:12894	OMIM:270150	J:128900 , J:129282 , J:129916