Phenotypes Associated with This Genotype

Genotype
MGI:7485763

• Allelic Composition: Adar^em3Qwan/Adar^em3Qwan
• Genetic Background: Not Specified

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

growth/size/body

decreased body size ( J:325221 )

• difference with wild-type increases with age

decreased body weight ( J:325221 )

• difference with wild-type increases with age

immune system

immune system phenotype ( J:325221 )

N • normal histology and no indications of inflammation in skin, liver, heart, lung, liver, and spleen

N • no chilblains in ears or toes

increased circulating interleukin-1 level ( J:325221 )

• in brain

increased circulating interleukin-17 level ( J:325221 )

• in brain

increased circulating interleukin-6 level ( J:325221 )

• in brain

abnormal chemokine level ( J:325221 )

• increased levels of CXCL1, CXCL9, CXCL10, CCL5, CCL11, CCL17 and CCL20 in brain

increased CXCL10 level ( J:325221 )

• in brain

homeostasis/metabolism

increased circulating interleukin-1 level ( J:325221 )

• in brain

increased circulating interleukin-17 level ( J:325221 )

• in brain

increased circulating interleukin-6 level ( J:325221 )

• in brain

abnormal chemokine level ( J:325221 )

• increased levels of CXCL1, CXCL9, CXCL10, CCL5, CCL11, CCL17 and CCL20 in brain

increased CXCL10 level ( J:325221 )

• in brain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Aicardi-Goutieres syndrome		DOID:0050629	OMIM:225750 OMIM:610181 OMIM:610329 OMIM:610333 OMIM:612952 OMIM:615010 OMIM:615846 OMIM:PS225750	J:325221