Phenotypes associated with this allele

• Allele Symbol: Ppia^tm1Lubn
• Allele Name: targeted mutation 1, Jeremy Luban
• Allele ID: MGI:3505553
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ppia^tm1Lubn/Ppia^tm1Lubn	129S6.129P2-Ppia^tm1Lubn	MGI:3511054
hm2	Ppia^tm1Lubn/Ppia^tm1Lubn	involves: 129P2/OlaHsd * MF1	MGI:3511052

Genotype
MGI:3511054

hm1

• Allelic Composition: Ppia^tm1Lubn/Ppia^tm1Lubn
• Genetic Background: 129S6.129P2-Ppia^tm1Lubn

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:93591 )

• slight reduction in survival

prenatal lethality, incomplete penetrance ( J:93591 )

• 15% homozygotes born rather than 25% expected when heterozygous parents mated

endocrine/exocrine glands

pancreas inflammation ( J:93591 )

• eosinophilic infiltrates in the pancreas of some animals with blepharitis

hematopoietic system

spleen hyperplasia ( J:93591 )

• splenocyte numbers are increased 80%

• spleen architecture otherwise normal

increased T cell number ( J:93591 )

• increased numbers of single positive CD4 and CD8 cells but T cell development is otherwise normal

increased immunoglobulin level ( J:93591 )

• with the exceptions noted, baseline levels of the various isotypes were normal

increased IgE level ( J:93591 )

• after immunization total IgE was elevated

increased IgG1 level ( J:93591 )

• baseline levels of IgG1 only were elevated

• after immunization, antigen specific IgG1 levels were elevated

abnormal CD4-positive, alpha-beta T cell physiology ( J:93591 )

• CD4 cells overproduce Il4 and Il2

immune system

spleen hyperplasia ( J:93591 )

• splenocyte numbers are increased 80%

• spleen architecture otherwise normal

increased T cell number ( J:93591 )

• increased numbers of single positive CD4 and CD8 cells but T cell development is otherwise normal

increased immunoglobulin level ( J:93591 )

• with the exceptions noted, baseline levels of the various isotypes were normal

increased IgE level ( J:93591 )

• after immunization total IgE was elevated

increased IgG1 level ( J:93591 )

• baseline levels of IgG1 only were elevated

• after immunization, antigen specific IgG1 levels were elevated

abnormal CD4-positive, alpha-beta T cell physiology ( J:93591 )

• CD4 cells overproduce Il4 and Il2

increased circulating interleukin-4 level ( J:93591 )

• elevated levels of Il4

increased interleukin-2 secretion ( J:93591 )

• CD4+ T cells overproduce Il2

increased interleukin-4 secretion ( J:93591 )

• CD4+ T cells cells overproduce Il4

increased inflammatory response ( J:93591 )

• eosinophilic infiltrates in the bone marrow of some animals with blepharitis

heart inflammation ( J:93591 )

• eosinophilic infiltrates in the hearts of some animals with blepharitis

pancreas inflammation ( J:93591 )

• eosinophilic infiltrates in the pancreas of some animals with blepharitis

increased susceptibility to type I hypersensitivity reaction ( J:93591 )

• homozygotes develop allergic pathology associated with increased Th2 cytokine production

blepharitis ( J:93591 )

• swelling and erythema of the eyelid in about 30% of animals

• appeared about 3 months after birth and worsened with age

• dense infiltrates of mononuclear cells, eosinophils, and mast cells in subepithelial stroma of conjunctiva and skin

liver inflammation ( J:93591 )

• eosinophilic infiltrates in the livers of some animals with blepharitis

vision/eye

blepharitis ( J:93591 )

• swelling and erythema of the eyelid in about 30% of animals

• appeared about 3 months after birth and worsened with age

• dense infiltrates of mononuclear cells, eosinophils, and mast cells in subepithelial stroma of conjunctiva and skin

cardiovascular system

heart inflammation ( J:93591 )

• eosinophilic infiltrates in the hearts of some animals with blepharitis

liver/biliary system

liver inflammation ( J:93591 )

• eosinophilic infiltrates in the livers of some animals with blepharitis

homeostasis/metabolism

increased circulating interleukin-4 level ( J:93591 )

• elevated levels of Il4

growth/size/body

spleen hyperplasia ( J:93591 )

• splenocyte numbers are increased 80%

• spleen architecture otherwise normal

Genotype
MGI:3511052

hm2

• Allelic Composition: Ppia^tm1Lubn/Ppia^tm1Lubn
• Genetic Background: involves: 129P2/OlaHsd * MF1

mortality/aging

prenatal lethality, incomplete penetrance ( J:93591 )

• slight reduction in embryonic survival

• 21% homozygotes born rather than 25% expected when heterozygous parents mated