All Phenotypes Trex1<tm1Tld> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Trex1^tm1Tld
targeted mutation 1, Tomas Lindahl
MGI:3052754

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd	MGI:3053060
hm2	Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N	MGI:5789968
hm3	Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * C57BL/6	MGI:5317328
hm4	Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * C57BL/6J	MGI:5925413
cx5	Tcra^tm1Mom/Tcra^tm1Mom Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:5317332
cx6	Ighm^tm1Cgn/Ighm^tm1Cgn Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6	MGI:5317333
cx7	Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N	MGI:5789969
cx8	Del(1Aim2-Ifi205)1Stsn/+ Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N	MGI:5790350
cx9	Mavs^tm1Itl/Mavs^tm1Itl Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * C57BL/6	MGI:5317329
cx10	Sting1^tm1Gnb/Sting1^tm1Gnb Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * C57BL/6	MGI:5317330
cx11	Rag2^tm1.1Cgn/Rag2^tm1.1Cgn Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * C57BL/6	MGI:5317331
cx12	Cgas^{tm1a(EUCOMM)Hmgu}/Cgas^{tm1a(EUCOMM)Hmgu} Trex1^tm1Tld/Trex1^tm1Tld	involves: 129P2/OlaHsd * C57BL/6N	MGI:5789966

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

♀	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

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

Allelic Composition	Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

cardiovascular system

heart inflammation ( J:234263 )

digestive/alimentary system

stomach inflammation ( J:234263 )

• glandular stomach inflammation

immune system

increased autoantibody level ( J:234263 )

• autoantibodies against heart tissue antigens are detected

increased inflammatory response ( J:234263 )

• iinflammation is observed in multiple tissues including heart, tongue, skeletal muscle, glandular stomach, and kidney

heart inflammation ( J:234263 )

stomach inflammation ( J:234263 )

• glandular stomach inflammation

myositis ( J:234263 )

kidney inflammation ( J:234263 )

mortality/aging

premature death ( J:234263 )

• mice develop a lethal autoimmune disease; death begins at 5 weeks of age

• all mice die by 30 weeks

muscle

myositis ( J:234263 )

renal/urinary system

kidney inflammation ( J:234263 )

Allelic Composition	Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

mortality/aging

premature death ( J:181257 )

immune system

immune system phenotype ( J:181257 )

N	• mice exhibit normal levels of antichromatic IgG and anti-dsDNA autoantibodies

increased IgG level ( J:181257 )

• progressive IgG deposition in kidney

increased susceptibility to systemic lupus erythematosus ( J:181257 )

• 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

increased anti-nuclear antigen antibody level ( J:181257 )

increased inflammatory response ( J:181257 )

• 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

myocarditis ( J:181257 )

• mice exhibit regions of lymphohistiocytic, degenerative, and ,in severally affected mice, fibrosing myocarditis

• myocarditis is more severe near the endocardial surface

stomach inflammation ( J:181257 )

• in the glandular stomach with chronic lymphoid aggregates within the mucosa and moderate proliferative gastritis

folliculitis ( J:181257 )

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

myositis ( J:181257 )

• lymphohistiocytic and degenerative to fibrosing myositis in the skeletal muscle and tongue

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

kidney inflammation ( J:181257 )

glomerulonephritis ( J:181257 )

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

skin inflammation ( J:181257 )

dermatitis ( J:181257 )

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

renal/urinary system

kidney inflammation ( J:181257 )

glomerulonephritis ( J:181257 )

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

cardiovascular system

cardiac fibrosis ( J:181257 )

myocarditis ( J:181257 )

• mice exhibit regions of lymphohistiocytic, degenerative, and ,in severally affected mice, fibrosing myocarditis

• myocarditis is more severe near the endocardial surface

digestive/alimentary system

stomach inflammation ( J:181257 )

• in the glandular stomach with chronic lymphoid aggregates within the mucosa and moderate proliferative gastritis

integument

folliculitis ( J:181257 )

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

skin inflammation ( J:181257 )

dermatitis ( J:181257 )

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

muscle

myositis ( J:181257 )

• 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

increased IgG level ( J:181257 )

• progressive IgG deposition in kidney

Allelic Composition	Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

immune system

increased susceptibility to autoimmune disorder ( J:243357 )

• mice irradiated with UVB develop erythematosquamous cutaneous lupus erythematosus-like skin lesions within days of irradiation

• skin lesions of UVB-irradiated mice have an interface dermatitis including basal hydropic degeneration of the epidermis and colloid bodies, extensive infiltration of CD45+ immune cells, and expression of cutaneous lupus erythematosus-typical chemokines (CXCL10 and MxA)

dermatitis ( J:243357 )

• UVB-irradiated mice exhibit interface dermatitis

integument

dermatitis ( J:243357 )

• UVB-irradiated mice exhibit interface dermatitis

skin lesions ( J:243357 )

• mice irradiated with UVB develop erythematosquamous cutaneous lupus erythematosus-like skin lesions within days

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cutaneous lupus erythematosus		DOID:0050169		J:243357

Allelic Composition	Tcra^tm1Mom/Tcra^tm1Mom Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tcra^tm1Mom mutation (6 available); any Tcra mutation (101 available)
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

mortality/aging

mortality/aging ( J:181257 )

N	• mortality observed in either single homozygote is rescued

immune system

immune system phenotype ( J:181257 )

N	• autoimmune pathology observed in Trex1^tm1Tld homozygotes is rescued

increased inflammatory response ( J:181257 )

• as in Tcra^tm1Mom homozygotes

colitis ( J:181257 )

• inflammatory bowel disease as in Tcra^tm1Mom homozygotes

myositis ( J:181257 )

• as in Tcra^tm1Mom homozygotes

skin inflammation ( J:181257 )

• as in Tcra^tm1Mom homozygotes

digestive/alimentary system

colitis ( J:181257 )

• inflammatory bowel disease as in Tcra^tm1Mom homozygotes

integument

skin inflammation ( J:181257 )

• as in Tcra^tm1Mom homozygotes

muscle

myositis ( J:181257 )

• as in Tcra^tm1Mom homozygotes

Allelic Composition	Ighm^tm1Cgn/Ighm^tm1Cgn Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ighm^tm1Cgn mutation (17 available); any Ighm mutation (56 available)
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

mortality/aging

premature death ( J:181257 )

• compared with Ighm^tm1Cgn homozygotes

• however, the premature death observed in Trex1^tm1Tld homozygotes is rescued

immune system

increased inflammatory response ( J:181257 )

• as in Trex1^tm1Tld homozygotes

myocarditis ( J:181257 )

• as in Trex1^tm1Tld homozygotes

kidney inflammation ( J:181257 )

• as in Trex1^tm1Tld homozygotes

tubular nephritis ( J:181257 )

• unlike in Trex1^tm1Tld homozygotes

renal/urinary system

renal/urinary system phenotype ( J:181257 )

N	• unlike Trex1^tm1Tld homozygotes, mice do not exhibit glomerular lesions

kidney inflammation ( J:181257 )

• as in Trex1^tm1Tld homozygotes

tubular nephritis ( J:181257 )

• unlike in Trex1^tm1Tld homozygotes

cardiovascular system

cardiac fibrosis ( J:181257 )

• as in Trex1^tm1Tld homozygotes

myocarditis ( J:181257 )

• as in Trex1^tm1Tld homozygotes

Allelic Composition	Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Del(1Aim2-Ifi205)1Stsn mutation (1 available); any Del(1Aim2-Ifi205)1Stsn mutation (1 available)
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

cardiovascular system

heart inflammation ( J:234263 )

• autoantibodies against heart tissue antigens are detected

digestive/alimentary system

stomach inflammation ( J:234263 )

• glandular stomach inflammation

immune system

increased autoantibody level ( J:234263 )

• autoantibodies against heart tissue antigens are detected

increased inflammatory response ( J:234263 )

• inflammation is observed in multiple tissues including heart, tongue, skeletal muscle, glandular stomach, and kidney

heart inflammation ( J:234263 )

• autoantibodies against heart tissue antigens are detected

stomach inflammation ( J:234263 )

• glandular stomach inflammation

myositis ( J:234263 )

kidney inflammation ( J:234263 )

mortality/aging

premature death ( J:234263 )

• mice develop a lethal autoimmune disease; death begins at 5 weeks of age

• all mice die by 30 weeks

muscle

myositis ( J:234263 )

renal/urinary system

kidney inflammation ( J:234263 )

Allelic Composition	Del(1Aim2-Ifi205)1Stsn/+ Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

Find Mice

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

cardiovascular system

heart inflammation ( J:234263 )

digestive/alimentary system

stomach inflammation ( J:234263 )

• glandular stomach inflammation

immune system

increased autoantibody level ( J:234263 )

• autoantibodies against heart tissue antigens are detected

increased inflammatory response ( J:234263 )

heart inflammation ( J:234263 )

stomach inflammation ( J:234263 )

• glandular stomach inflammation

myositis ( J:234263 )

• inflammation is observed in multiple tissues including heart, tongue, skeletal muscle, glandular stomach, and kidney

kidney inflammation ( J:234263 )

mortality/aging

premature death ( J:234263 )

• mice develop a lethal autoimmune disease; death begins at 5 weeks of age

• all mice die by 30 weeks

muscle

myositis ( J:234263 )

• inflammation is observed in multiple tissues including heart, tongue, skeletal muscle, glandular stomach, and kidney

renal/urinary system

kidney inflammation ( J:234263 )

Allelic Composition	Mavs^tm1Itl/Mavs^tm1Itl Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mavs^tm1Itl mutation (0 available); any Mavs mutation (36 available)
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

mortality/aging

premature death ( J:181257 )

• as in Trex1^tm1Tld homozygotes

immune system

increased inflammatory response ( J:181257 )

• in the skeletal muscle, tongue, skin, glandular stomach and heart as in Trex1^tm1Tld homozygotes

myocarditis ( J:181257 )

stomach inflammation ( J:181257 )

myositis ( J:181257 )

skin inflammation ( J:181257 )

cardiovascular system

myocarditis ( J:181257 )

digestive/alimentary system

stomach inflammation ( J:181257 )

integument

skin inflammation ( J:181257 )

muscle

myositis ( J:181257 )

Allelic Composition	Sting1^tm1Gnb/Sting1^tm1Gnb Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sting1^tm1Gnb mutation (0 available); any Sting1 mutation (51 available)
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

mortality/aging

mortality/aging ( J:181257 )

N	• mice exhibit normal survival unlike Trex1^tm1Tld homozygotes

immune system

immune system phenotype ( J:181257 )

N	• mice do not exhibit multi-organ inflammation unlike Trex1^tm1Tld homozygotes

Allelic Composition	Rag2^tm1.1Cgn/Rag2^tm1.1Cgn Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rag2^tm1.1Cgn mutation (4 available); any Rag2 mutation (119 available)
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

mortality/aging

mortality/aging ( J:181257 )

N	• autoimmune pathology and mortality observed in Trex1^tm1Tld homozygotes are rescued regardless of hematopoietic reconstitution with bone marrow from Ifnar1^tm1Agt homozygotes

immune system

immune system phenotype ( J:181257 )

N	• autoimmune pathology and mortality observed in Trex1^tm1Tld homozygotes are rescued regardless of hematopoietic reconstitution with bone marrow from Ifnar1^tm1Agt homozygotes

Allelic Composition	Cgas^{tm1a(EUCOMM)Hmgu}/Cgas^{tm1a(EUCOMM)Hmgu} Trex1^tm1Tld/Trex1^tm1Tld
Genetic Background	involves: 129P2/OlaHsd * C57BL/6N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cgas^{tm1a(EUCOMM)Hmgu} mutation (1 available); any Cgas mutation (24 available)
Trex1^tm1Tld mutation (3 available); any Trex1 mutation (26 available)

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

immune system

increased susceptibility to Retroviridae infection ( J:234263 )

• increase in fraction of infected bone marrow derived macrophages following lentivirus infection as compared to wild type or Trex1^tm1Tld only controls

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