Phenotypes associated with this allele

• Allele Symbol: Pld3^em1Nemz
• Allele Name: endonuclease-mediated mutation 1, David Nemazeez
• Allele ID: MGI:6451776
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pld3^em1Nemz/Pld3^em1Nemz	C57BL/6J-Pld3^em1Nemz	MGI:6452090
cx2	Pld3^em1Nemz/Pld3^em1Nemz Pld4^tm1.2Nemz/Pld4^tm1.2Nemz	B6.Cg-Pld3^em1Nemz Pld4^tm1.1Nemz	MGI:6452092

Genotype
MGI:6452090

hm1

• Allelic Composition: Pld3^em1Nemz/Pld3^em1Nemz
• Genetic Background: C57BL/6J-Pld3^em1Nemz

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

hematopoietic system

hematopoietic system phenotype ( J:281205 )

N • no elevation of expression of major histocompatibility complex (MHC) class II peptides on surface of resident peritoneal macrophages

N • normal splenic NK T cell number

N • normal macrophage response to TLR4 agonist lipopolysaccharide

immune system

immune system phenotype ( J:281205 )

N • normal spleen

increased interleukin-6 secretion ( J:281205 )

• increased thioglycolate-elicited IL6 expression in macrophages in response to A-type CpG ODN 2216PS

Genotype
MGI:6452092

cx2

• Allelic Composition: Pld3^em1Nemz/Pld3^em1Nemz; Pld4^tm1.2Nemz/Pld4^tm1.2Nemz
• Genetic Background: B6.Cg-Pld3^em1Nemz Pld4^tm1.1Nemz

liver/biliary system

liver inflammation ( J:281205 )

• severe liver inflammation leads to death between age P12 and P21

• macroscopic white areas of necrosis, regions of vesicular steatosis, hemophagocytosis and multinucleated hepatocytes

• infiltration by CD68+ myeloid cells at age P16

hepatic steatosis ( J:281205 )

• multinucleated hepatocytes

mortality/aging

preweaning lethality, complete penetrance ( J:281205 )

• severe liver inflammation leads to death between age P12 and P21

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:281205 )

N • normal IFNA and IL1A levels at age P16

abnormal circulating chemokine level ( J:281205 )

• increased levels of CXCL10, CCL7 and CCL2 at age P16

increased circulating CXCL10 level ( J:281205 )

• increased levels of CXCL10 at P16

increased circulating interferon-gamma level ( J:281205 )

• at age P16

increased circulating tumor necrosis factor level ( J:281205 )

• at age P16

increased circulating ferritin level ( J:281205 )

• at age P16

immune system

hemophagocytosis ( J:281205 )

abnormal circulating chemokine level ( J:281205 )

• increased levels of CXCL10, CCL7 and CCL2 at age P16

increased circulating CXCL10 level ( J:281205 )

• increased levels of CXCL10 at P16

increased circulating interferon-gamma level ( J:281205 )

• at age P16

increased circulating tumor necrosis factor level ( J:281205 )

• at age P16

liver inflammation ( J:281205 )

• severe liver inflammation leads to death between age P12 and P21

• macroscopic white areas of necrosis, regions of vesicular steatosis, hemophagocytosis and multinucleated hepatocytes

• infiltration by CD68+ myeloid cells at age P16

hematopoietic system

hemophagocytosis ( J:281205 )

growth/size/body

decreased birth body size ( J:281205 )