All Phenotypes Tnf<Bpsm1> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tnf^Bpsm1/Tnf^Bpsm1	involves: C57BL/6	MGI:6272036
ht2	Tnf^Bpsm1/Tnf⁺	C.Cg-Tnf^Bpsm1	MGI:6272038
ht3	Tnf^Bpsm1/Tnf⁺	involves: C57BL/6	MGI:6272035
cx4	Tnf^Bpsm1/Tnf^Bpsm1 Tnfrsf1a^tm1Mak/Tnfrsf1a^tm1Mak	involves: 129S2/SvPas * C57BL/6	MGI:6272039
cx5	Tnf^Bpsm1/Tnf⁺ Tnfrsf1a^tm1Mak/Tnfrsf1a^tm1Mak	involves: 129S2/SvPas * C57BL/6	MGI:6272040

Allelic Composition	Tnf^Bpsm1/Tnf^Bpsm1
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tnf^Bpsm1 mutation (0 available); any Tnf mutation (46 available)

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

behavior/neurological

limb paralysis ( J:226052 )

• mice become paralyzed around 6 weeks of age

cardiovascular system

aortic aneurysm ( J:226052 )

• Background Sensitivity: aortic aneurism is much less pronounced on the C57BL/6 background than in mice on a BALB/c background

aortic valve inflammation ( J:226052 )

mitral valve inflammation ( J:226052 )

craniofacial

accelerated temporomandibular joint osteoarthritis ( J:226052 )

• temporomandibular joints are severely affected

homeostasis/metabolism

increased circulating tumor necrosis factor level ( J:226052 )

immune system

aortic valve inflammation ( J:226052 )

mitral valve inflammation ( J:226052 )

accelerated temporomandibular joint osteoarthritis ( J:226052 )

• temporomandibular joints are severely affected

increased circulating tumor necrosis factor level ( J:226052 )

rheumatoid arthritis ( J:226052 )

• mice develop polyarthritis at an accelerated rate compared to heterozygotes

• polyarthritis is due to abnormal proliferation of synoviocytes and high mechanical stress

limbs/digits/tail

abnormal wrist joint morphology ( J:226052 )

• 3 week old mice exhibit clubbed wrists

mortality/aging

mortality/aging ( J:226052 )

N	• Background Sensitivity: no mice on the C57BL/6 background die up to 200 days of age while sudden death is seen on the BALB/c background

skeleton

accelerated temporomandibular joint osteoarthritis ( J:226052 )

• temporomandibular joints are severely affected

rheumatoid arthritis ( J:226052 )

• mice develop polyarthritis at an accelerated rate compared to heterozygotes

• polyarthritis is due to abnormal proliferation of synoviocytes and high mechanical stress

abnormal wrist joint morphology ( J:226052 )

• 3 week old mice exhibit clubbed wrists

joint dislocation ( J:226052 )

• 3 week old mice exhibit luxated ankles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rheumatoid arthritis		DOID:7148	OMIM:180300	J:226052

Allelic Composition	Tnf^Bpsm1/Tnf⁺
Genetic Background	C.Cg-Tnf^Bpsm1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tnf^Bpsm1 mutation (0 available); any Tnf mutation (46 available)

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

cardiovascular system

aortic aneurysm ( J:226052 )

• Background Sensitivity: all mice exhibit aortic root aneurisms; aneurisms are much more pronounced on the BALB/c background than on a C57BL/6 background

thick mitral valve ( J:226052 )

thick aortic valve ( J:226052 )

cardiac fibrosis ( J:226052 )

• fibrosis involving the aortic and mitral valves

cardiac valve regurgitation ( J:226052 )

• valve disease manifests mainly as regurgitation, indicated by the presence of a backward aortic blood flow

cardiovalvulitis ( J:226052 )

• aortic and mitral valve inflammation

• however, the tricuspid and pulmonary valves are unaffected

aortic valve inflammation ( J:226052 )

mitral valve inflammation ( J:226052 )

immune system

cardiovalvulitis ( J:226052 )

• aortic and mitral valve inflammation

• however, the tricuspid and pulmonary valves are unaffected

aortic valve inflammation ( J:226052 )

mitral valve inflammation ( J:226052 )

mortality/aging

premature death ( J:226052 )

• Background Sensitivity: many mice die suddenly between 90 and 160 days of age on the BALB/c background unlike on a C57BL/6 background

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
heart valve disease		DOID:4079		J:226052

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

behavior/neurological

decreased grip strength ( J:226052 )

• mice gradually lose grasping strength

hindlimb paralysis ( J:226052 )

• progressive paralysis of the hindlimbs

cardiovascular system

aortic aneurysm ( J:226052 )

• Background Sensitivity: aortic aneurism is much less pronounced on the C57BL/6 background than in mice on a BALB/c background

aortic valve inflammation ( J:226052 )

mitral valve inflammation ( J:226052 )

homeostasis/metabolism

increased circulating tumor necrosis factor level ( J:226052 )

• increase in circulating TNF levels

• however, circulating levels of IL1 beta, IL6, IL18, and IL23 are normal

immune system

aortic valve inflammation ( J:226052 )

mitral valve inflammation ( J:226052 )

increased circulating tumor necrosis factor level ( J:226052 )

• increase in circulating TNF levels

• however, circulating levels of IL1 beta, IL6, IL18, and IL23 are normal

rheumatoid arthritis ( J:226052 )

• mice exhibit a severe symmetrical, erosive chronic polyarthritis that predominately affects the peripheral joints and less severe damage in central joints

• joints show extensive pannus invasion, bone destruction and cartilage erosion

• pannus tissue is mostly F4.80 cells and most affected joints are devoid of lymphocytes and neutrophils

• bone erosion is maximal in joints with the highest load factor

• lethally irradiated wild-type mice transplanted with mutant bone marrow develop arthritis within 5 months

• 5 week old mutant mice transplanted with wild-type bone marrow do not develop arthritis over the following 5 months

• however, mice do not contain IgM or IgG rheumatoid factors and no inflammation is seen in the skin, liver, blood vessels, eyes or gut and no evidence for cartilage or bone repair is seen

limbs/digits/tail

abnormal limb morphology ( J:226052 )

• limbs are deformed and mice gradually show forelimbs that become angled at the wrist level and hind-limb digits become immobile

mortality/aging

mortality/aging ( J:226052 )

N	• Background Sensitivity: no mice on the C57BL/6 background die up to 200 days of age while sudden death is seen on the BALB/c background

skeleton

rheumatoid arthritis ( J:226052 )

• mice exhibit a severe symmetrical, erosive chronic polyarthritis that predominately affects the peripheral joints and less severe damage in central joints

• joints show extensive pannus invasion, bone destruction and cartilage erosion

• pannus tissue is mostly F4.80 cells and most affected joints are devoid of lymphocytes and neutrophils

• bone erosion is maximal in joints with the highest load factor

• lethally irradiated wild-type mice transplanted with mutant bone marrow develop arthritis within 5 months

• 5 week old mutant mice transplanted with wild-type bone marrow do not develop arthritis over the following 5 months

• however, mice do not contain IgM or IgG rheumatoid factors and no inflammation is seen in the skin, liver, blood vessels, eyes or gut and no evidence for cartilage or bone repair is seen

abnormal rib joint morphology ( J:226052 )

• the 13th (floating) ribs enter the neural canal instead of being attached to the centrum

abnormal thoracic vertebrae morphology ( J:226052 )

• hunchback is due to erosion of the T10-T13 thoracic vertebrae

abnormal spine curvature ( J:226052 )

• abnormal curvature of the spine at the level of the rib cage

kyphosis ( J:226052 )

• a pronounced hunchback is seen at around 7 months of age associated with the progressive paralysis of hind limbs

joint dislocation ( J:226052 )

• hindpaws of 100 day old mice are luxated at the level of the ankle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rheumatoid arthritis		DOID:7148	OMIM:180300	J:226052

Allelic Composition	Tnf^Bpsm1/Tnf^Bpsm1 Tnfrsf1a^tm1Mak/Tnfrsf1a^tm1Mak
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tnf^Bpsm1 mutation (0 available); any Tnf mutation (46 available)
Tnfrsf1a^tm1Mak mutation (2 available); any Tnfrsf1a mutation (47 available)

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

homeostasis/metabolism

increased circulating tumor necrosis factor level ( J:226052 )

immune system

increased circulating tumor necrosis factor level ( J:226052 )

skeleton

skeleton phenotype ( J:226052 )

N	• mice do not develop rheumatoid arthritis

Allelic Composition	Tnf^Bpsm1/Tnf⁺ Tnfrsf1a^tm1Mak/Tnfrsf1a^tm1Mak
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

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

homeostasis/metabolism

increased circulating tumor necrosis factor level ( J:226052 )

immune system

increased circulating tumor necrosis factor level ( J:226052 )

skeleton

skeleton phenotype ( J:226052 )

N	• mice do not develop rheumatoid arthritis

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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