Phenotypes Associated with This Genotype

Genotype
MGI:7281832

• Allelic Composition: Adar^em1Stsn/Adar^tm1Olds
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

growth/size/body

decreased body size ( J:308678 )

• at weaning

hematopoietic system

abnormal spleen morphology ( J:308678 )

• lymphoid depletion

homeostasis/metabolism

abnormal homeostasis ( J:308678 )

• increased expression of interferon-stimulated genes in cerebellum, kidney and liver

• increased expression of integrated stress response (ISR) genes in kidney and liver

• normal expression of integrated stress response (ISR) genes in cerebellum

increased circulating alkaline phosphatase level ( J:308678 )

decreased circulating serum albumin level ( J:308678 )

immune system

abnormal spleen morphology ( J:308678 )

• lymphoid depletion

liver/biliary system

abnormal liver morphology ( J:308678 )

• extensive microvesicular cytoplasmic vacuolation

mortality/aging

lethality, complete penetrance ( J:308678 )

• no survival beyond ~130 days

renal/urinary system

abnormal renal glomerulus morphology ( J:308678 )

• significant immunoglobulin G (IgG) deposition

expanded mesangial matrix ( J:308678 )

• increasing with age

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:308678