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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Trex1tm1Tld
targeted mutation 1, Tomas Lindahl
MGI:3052754
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Trex1tm1Tld/Trex1tm1Tld involves: 129P2/OlaHsd MGI:3053060
hm2
Trex1tm1Tld/Trex1tm1Tld involves: 129P2/OlaHsd * C57BL/6 MGI:5317328
cx3
Tcratm1Mom/Tcratm1Mom
Trex1tm1Tld/Trex1tm1Tld
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 MGI:5317332
cx4
Ighmtm1Cgn/Ighmtm1Cgn
Trex1tm1Tld/Trex1tm1Tld
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 MGI:5317333
cx5
Mavstm1Itl/Mavstm1Itl
Trex1tm1Tld/Trex1tm1Tld
involves: 129P2/OlaHsd * C57BL/6 MGI:5317329
cx6
Tmem173tm1Gnb/Tmem173tm1Gnb
Trex1tm1Tld/Trex1tm1Tld
involves: 129P2/OlaHsd * C57BL/6 MGI:5317330
cx7
Rag2tm1.1Cgn/Rag2tm1.1Cgn
Trex1tm1Tld/Trex1tm1Tld
involves: 129P2/OlaHsd * C57BL/6 MGI:5317331


Genotype
MGI:3053060
hm1
Allelic
Composition
Trex1tm1Tld/Trex1tm1Tld
Genetic
Background
involves: 129P2/OlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trex1tm1Tld mutation (0 available); any Trex1 mutation (4 available)
phenotype observed in females
phenotype observed in males
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 ID Ref(s)
Aicardi-Goutieres Syndrome 1; AGS1 225750 J:145466




Genotype
MGI:5317328
hm2
Allelic
Composition
Trex1tm1Tld/Trex1tm1Tld
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trex1tm1Tld mutation (0 available); any Trex1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

immune system
N
• mice exhibit normal levels of antichromatic IgG and anti-dsDNA autoantibodies
• progressive IgG deposition in kidney
• mice exhibit symptoms of lupus (increased anti-nuclear antigen antibodies, IgG depositions in the kidney and kidney inflammation)
• however, mice exhibit normal levels of antichromatic IgG and anti-dsDNA autoantibodies
• in the skeletal muscle, tongue, skin, glandular stomach and heart
• however, mice do not exhibit inflammation in the brain, colon, small intestine, pancreas, lung and liver
• mice exhibit regions of lymphohistiocytic, degenerative, and ,in severally affected mice, fibrosing myocarditis
• myocarditis is more severe near the endocardial surface
• in the glandular stomach with chronic lymphoid aggregates within the mucosa and moderate proliferative gastritis
• mild to moderate lymphohistiocytic dermatitis, perifolliculitis and myositis on the muzzle
• lymphohistiocytic and degenerative to fibrosing myositis in the skeletal muscle and tongue
• mild to moderate lymphohistiocytic dermatitis, perifolliculitis and myositis on the muzzle
• mice exhibit mild membranoproliferative glomerulonephritis with hypersegmentation, expanded mesangial matrix and increased cellularity with immune cell infiltrates
• mild to moderate lymphohistiocytic dermatitis, perifolliculitis and myositis on the muzzle

renal/urinary system
• mice exhibit mild membranoproliferative glomerulonephritis with hypersegmentation, expanded mesangial matrix and increased cellularity with immune cell infiltrates

cardiovascular system
• mice exhibit regions of lymphohistiocytic, degenerative, and ,in severally affected mice, fibrosing myocarditis
• myocarditis is more severe near the endocardial surface

digestive/alimentary system
• in the glandular stomach with chronic lymphoid aggregates within the mucosa and moderate proliferative gastritis

integument
• mild to moderate lymphohistiocytic dermatitis, perifolliculitis and myositis on the muzzle
• mild to moderate lymphohistiocytic dermatitis, perifolliculitis and myositis on the muzzle

muscle
• lymphohistiocytic and degenerative to fibrosing myositis in the skeletal muscle and tongue
• mild to moderate lymphohistiocytic dermatitis, perifolliculitis and myositis on the muzzle

hematopoietic system
• progressive IgG deposition in kidney




Genotype
MGI:5317332
cx3
Allelic
Composition
Tcratm1Mom/Tcratm1Mom
Trex1tm1Tld/Trex1tm1Tld
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcratm1Mom mutation (3 available); any Tcra mutation (74 available)
Trex1tm1Tld mutation (0 available); any Trex1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mortality observed in either single homozygote is rescued

immune system
N
• autoimmune pathology observed in Trex1tm1Tld homozygotes is rescued
• as in Tcratm1Mom homozygotes
• inflammatory bowel disease as in Tcratm1Mom homozygotes
• as in Tcratm1Mom homozygotes
• as in Tcratm1Mom homozygotes

digestive/alimentary system
• inflammatory bowel disease as in Tcratm1Mom homozygotes

integument
• as in Tcratm1Mom homozygotes

muscle
• as in Tcratm1Mom homozygotes




Genotype
MGI:5317333
cx4
Allelic
Composition
Ighmtm1Cgn/Ighmtm1Cgn
Trex1tm1Tld/Trex1tm1Tld
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighmtm1Cgn mutation (19 available); any Ighm mutation (28 available)
Trex1tm1Tld mutation (0 available); any Trex1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• compared with Ighmtm1Cgn homozygotes
• however, the premature death observed in Trex1tm1Tld homozygotes is rescued

immune system
• as in Trex1tm1Tld homozygotes
• as in Trex1tm1Tld homozygotes
• as in Trex1tm1Tld homozygotes
• unlike in Trex1tm1Tld homozygotes

renal/urinary system
N
• unlike Trex1tm1Tld homozygotes, mice do not exhibit glomerular lesions
• as in Trex1tm1Tld homozygotes
• unlike in Trex1tm1Tld homozygotes

cardiovascular system
• as in Trex1tm1Tld homozygotes
• as in Trex1tm1Tld homozygotes




Genotype
MGI:5317329
cx5
Allelic
Composition
Mavstm1Itl/Mavstm1Itl
Trex1tm1Tld/Trex1tm1Tld
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mavstm1Itl mutation (0 available); any Mavs mutation (21 available)
Trex1tm1Tld mutation (0 available); any Trex1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• as in Trex1tm1Tld homozygotes

immune system
• in the skeletal muscle, tongue, skin, glandular stomach and heart as in Trex1tm1Tld homozygotes

cardiovascular system

digestive/alimentary system

integument

muscle




Genotype
MGI:5317330
cx6
Allelic
Composition
Tmem173tm1Gnb/Tmem173tm1Gnb
Trex1tm1Tld/Trex1tm1Tld
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tmem173tm1Gnb mutation (0 available); any Tmem173 mutation (10 available)
Trex1tm1Tld mutation (0 available); any Trex1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• mice exhibit normal survival unlike Trex1tm1Tld homozygotes

immune system
N
• mice do not exhibit multi-organ inflammation unlike Trex1tm1Tld homozygotes




Genotype
MGI:5317331
cx7
Allelic
Composition
Rag2tm1.1Cgn/Rag2tm1.1Cgn
Trex1tm1Tld/Trex1tm1Tld
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rag2tm1.1Cgn mutation (2 available); any Rag2 mutation (64 available)
Trex1tm1Tld mutation (0 available); any Trex1 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• autoimmune pathology and mortality observed in Trex1tm1Tld homozygotes are rescued regardless of hematopoietic reconstitution with bone marrow from Ifnar1tm1Agt homozygotes

immune system
N
• autoimmune pathology and mortality observed in Trex1tm1Tld homozygotes are rescued regardless of hematopoietic reconstitution with bone marrow from Ifnar1tm1Agt homozygotes





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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory