Mouse Genome Informatics
hm
    Trex1tm1Tld/Trex1tm1Tld
involves: 129P2/OlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• 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
• degeneration of myocytes with edema between the myofibers is seen
• 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
• inflammatory changes in the heart
• inflammation of the endothelium extending into the muscle wall is seen in mutant atria

hematopoietic system
• atrophy of the cortical area of the thymus is seen
• in less than 10% of older mice enlarged spleens are seen
• enlarged B-cell follicles are seen
• indistinct marginal zones are seen

immune system
• inflammatory changes in the heart
• inflammation of the endothelium extending into the muscle wall is seen in mutant atria
• atrophy of the cortical area of the thymus is seen
• in less than 10% of older mice enlarged spleens are seen
• enlarged B-cell follicles are seen
• indistinct marginal zones are seen
• in less than 10% of older mice enlarged lymph nodes are seen
• inflammatory changes in the skin

liver/biliary system
• necrotic areas in the liver are occasionally seen

muscle
• degeneration of myocytes with edema between the myofibers is seen
• 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
• necrotic areas in the kidney are occasionally seen

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

integument
• inflammatory changes in the skin

endocrine/exocrine glands
• atrophy of the cortical area of the thymus is seen

Mouse Models of Human Disease
OMIM IDRef(s)
Aicardi-Goutieres Syndrome 1; AGS1 225750 J:145466