Phenotypes Associated with This Genotype

Genotype
MGI:2174925

• Allelic Composition: Tgfb1^tm1Doe/Tgfb1^tm1Doe
• Genetic Background: involves: 129S2/SvPas * CF-1

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

mortality/aging

lethality at weaning, complete penetrance ( J:2892 , J:99033 )

• mice die around 3 weeks of age from wasting (J:2892)

• due to multifocal inflammation, median survival of mutant mice is 21 days (J:99033)

growth/size/body

cachexia ( J:2892 )

• at ~3 weeks of age, mice exhibit severe wasting

hematopoietic system

increased leukocyte cell number ( J:2892 )

• average number of white blood cells is usually elevated in mutants

small spleen ( J:2892 )

• in most animals, spleens are smaller than in controls

immune system

increased leukocyte cell number ( J:2892 )

• average number of white blood cells is usually elevated in mutants

small spleen ( J:2892 )

• in most animals, spleens are smaller than in controls

abnormal Peyer's patch germinal center morphology ( J:2892 )

• Peyer's patches possess less distinct germinal centers compared to normal controls

decreased Peyer's patch number ( J:2892 )

• Peyer's patches are fewer than normal

enlarged lymph nodes ( J:2892 )

• >60% of mice have slightly enlarged lymph nodes

abnormal inflammatory response ( J:2892 )

• mild to moderate inflammation of serosa of internal organs (stomach, intestine, kidney, ovary, and testis) is seen in some mice

heart inflammation ( J:2892 )

• primarily (~80%) lymphocytic and plasmacytic inflammation; in some animals, inflammation involves pericardium, myocardium and endocardium of atria and ventricles

salivary gland inflammation ( J:2892 )

• inflammatory cell infiltration is primarily periductal; primarily (~80%) lymphocytic and plasmacytic inflammation; some degree of multifocal inflammatory cell infiltration is seen in ~50% of animals

stomach inflammation ( J:2892 )

• inflammation is mainly granulocytic (60% neutrophils)

lacrimal gland inflammation ( J:2892 )

pancreas inflammation ( J:2892 )

• inflammatory cell infiltration is primarily periductal; primarily (~80%) lymphocytic and plasmacytic inflammation; some degree of multifocal inflammation is seen in ~50% of animals

brain inflammation ( J:2892 )

• primarily (~80%) lymphocytic and plasmacytic inflammation

diaphragmitis ( J:2892 )

eye inflammation ( J:2892 )

• some mice show conjunctivitis, while others display inflammation of striated ocular muscle, or lacrimal gland inflammation

conjunctivitis ( J:2892 )

• seen in some animals prior to death

liver inflammation ( J:2892 )

• inflammatory cell infiltration is primarily periductal; granulocytes and lymphocytes are ~equal in number

myositis ( J:2892 )

• primarily (~80%) lymphocytic and plasmacytic inflammation; various muscles (diaphragm, masseter, leg)

lung inflammation ( J:2892 )

• primarily (~80%) lymphocytic and plasmacytic inflammation

skin inflammation ( J:2892 )

• seen in some animals prior to death

liver/biliary system

liver inflammation ( J:2892 )

• inflammatory cell infiltration is primarily periductal; granulocytes and lymphocytes are ~equal in number

multifocal hepatic necrosis ( J:2892 )

• seen in some animals

cardiovascular system

myocardium necrosis ( J:2892 )

• variable degrees are observed

heart inflammation ( J:2892 )

• primarily (~80%) lymphocytic and plasmacytic inflammation; in some animals, inflammation involves pericardium, myocardium and endocardium of atria and ventricles

muscle

myocardium necrosis ( J:2892 )

• variable degrees are observed

diaphragmitis ( J:2892 )

myositis ( J:2892 )

• primarily (~80%) lymphocytic and plasmacytic inflammation; various muscles (diaphragm, masseter, leg)

abnormal diaphragm morphology ( J:2892 )

• diaphragms show inflammation and necrosis severe enough to interfere with respiration

endocrine/exocrine glands

salivary gland inflammation ( J:2892 )

• inflammatory cell infiltration is primarily periductal; primarily (~80%) lymphocytic and plasmacytic inflammation; some degree of multifocal inflammatory cell infiltration is seen in ~50% of animals

lacrimal gland inflammation ( J:2892 )

pancreas inflammation ( J:2892 )

• inflammatory cell infiltration is primarily periductal; primarily (~80%) lymphocytic and plasmacytic inflammation; some degree of multifocal inflammation is seen in ~50% of animals

digestive/alimentary system

gastric ulcer ( J:2892 )

• severe focal ulceration and/or hyperplasia of basal epithelial layer accompanies inflammation; non-glandular portion of stomach in most mice shows some degree of acanthosis and inflammatory cell infiltration

gastric necrosis ( J:2892 )

• variable degrees are observed

salivary gland inflammation ( J:2892 )

• inflammatory cell infiltration is primarily periductal; primarily (~80%) lymphocytic and plasmacytic inflammation; some degree of multifocal inflammatory cell infiltration is seen in ~50% of animals

stomach inflammation ( J:2892 )

• inflammation is mainly granulocytic (60% neutrophils)

respiratory system

lung inflammation ( J:2892 )

• primarily (~80%) lymphocytic and plasmacytic inflammation

vision/eye

lacrimal gland inflammation ( J:2892 )

eye inflammation ( J:2892 )

• some mice show conjunctivitis, while others display inflammation of striated ocular muscle, or lacrimal gland inflammation

conjunctivitis ( J:2892 )

• seen in some animals prior to death

behavior/neurological

hunched posture ( J:2892 )

• seen in some animals prior to death

nervous system

brain inflammation ( J:2892 )

• primarily (~80%) lymphocytic and plasmacytic inflammation

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:2892 )

N • cytokine levels are comparable to controls

integument

skin inflammation ( J:2892 )

• seen in some animals prior to death

disheveled coat ( J:2892 )

• seen in some animals prior to death

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sjogren's syndrome		DOID:12894	OMIM:270150	J:2892