Phenotypes Associated with This Genotype

Genotype
MGI:3053060

• Allelic Composition: Trex1^tm1Tld/Trex1^tm1Tld
• Genetic Background: involves: 129P2/OlaHsd

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

mortality/aging

premature death ( J:92264 , J:202757 )

• median survival time is around 6 months with about 60% of the deaths due to circulatory failure (J:92264)

• survival time for homozygotes born from heterozygous mothers is shorter than that of homozygotes born from homozygous mothers (J:92264)

• median survival is 7 weeks (J:202757)

cardiovascular system

abnormal myocardial fiber morphology ( J:92264 )

• degeneration of myocytes with edema between the myofibers is seen

myocardial fiber degeneration ( J:92264 )

cardiomyopathy ( J:92264 )

• mutants that died due to circulatory failure displayed mild to severe cardiomyopathy with 1/3 having a heart 2 to 3 times larger than normal

• cardiomyopathy is not due to increased susceptibility to cardiotoxic viruses

• along with thrombosis one or both atria are enlarged

heart inflammation ( J:202757 )

• inflammatory changes in the heart

myocarditis ( J:92264 )

• inflammation of the endothelium extending into the muscle wall is seen in mutant atria

hematopoietic system

thymus cortex hypoplasia ( J:92264 )

• atrophy of the cortical area of the thymus is seen

enlarged spleen ( J:92264 )

• in less than 10% of older mice enlarged spleens are seen

increased spleen B cell follicle size ( J:92264 )

• enlarged B-cell follicles are seen

abnormal spleen marginal zone morphology ( J:92264 )

• indistinct marginal zones are seen

immune system

heart inflammation ( J:202757 )

• inflammatory changes in the heart

myocarditis ( J:92264 )

• inflammation of the endothelium extending into the muscle wall is seen in mutant atria

thymus cortex hypoplasia ( J:92264 )

• atrophy of the cortical area of the thymus is seen

enlarged spleen ( J:92264 )

• in less than 10% of older mice enlarged spleens are seen

increased spleen B cell follicle size ( J:92264 )

• enlarged B-cell follicles are seen

abnormal spleen marginal zone morphology ( J:92264 )

• indistinct marginal zones are seen

enlarged lymph nodes ( J:92264 )

• in less than 10% of older mice enlarged lymph nodes are seen

abnormal interferon secretion ( J:234263 )

• production of type I interferon is reduced in MEFs following transfection with dsDNA (calf thymus DNA)

increased autoantibody level ( J:202757 )

skin inflammation ( J:202757 )

• inflammatory changes in the skin

liver/biliary system

hepatic necrosis ( J:92264 )

• necrotic areas in the liver are occasionally seen

muscle

abnormal myocardial fiber morphology ( J:92264 )

• degeneration of myocytes with edema between the myofibers is seen

myocardial fiber degeneration ( J:92264 )

cardiomyopathy ( J:92264 )

• mutants that died due to circulatory failure displayed mild to severe cardiomyopathy with 1/3 having a heart 2 to 3 times larger than normal

• cardiomyopathy is not due to increased susceptibility to cardiotoxic viruses

• along with thrombosis one or both atria are enlarged

renal/urinary system

renal necrosis ( J:92264 )

• necrotic areas in the kidney are occasionally seen

homeostasis/metabolism

abnormal atrial thrombosis ( J:92264 )

• thrombus formation is seen in one or both of the atria in mutants that died from circulatory failure

integument

skin inflammation ( J:202757 )

• inflammatory changes in the skin

endocrine/exocrine glands

thymus cortex hypoplasia ( J:92264 )

• atrophy of the cortical area of the thymus is seen

cellular

hepatic necrosis ( J:92264 )

• necrotic areas in the liver are occasionally seen

renal necrosis ( J:92264 )

• necrotic areas in the kidney are occasionally seen

growth/size/body

enlarged spleen ( J:92264 )

• in less than 10% of older mice enlarged spleens are seen

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:145466