Phenotypes associated with this allele

• Allele Symbol: Ddx46^em1Caox
• Allele Name: endonuclease-mediated mutation 1, Xuetao Cao
• Allele ID: MGI:6357907
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ddx46^em1Caox/Ddx46^em1Caox	involves: C57BL/6J	MGI:6513786
ht2	Ddx46^em1Caox/Ddx46^+	involves: C57BL/6J	MGI:6513787

Genotype
MGI:6513786

hm1

• Allelic Composition: Ddx46^em1Caox/Ddx46^em1Caox
• Genetic Background: involves: C57BL/6J

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

mortality/aging

prenatal lethality, complete penetrance ( J:271836 )

• no homozygous mutant mice are born; embryos are reported to die in utero (stage not specified)

Genotype
MGI:6513787

ht2

• Allelic Composition: Ddx46^em1Caox/Ddx46⁺
• Genetic Background: involves: C57BL/6J

growth/size/body

decreased body size ( J:271836 )

• mice appear smaller than wild-type controls

immune system

increased circulating interferon-beta level ( J:271836 )

• increased serum IFN-beta level following i.p. vesicular stomatitis virus (VSV) infection

increased interferon-beta secretion ( J:271836 )

• increased Ifnb mRNA levels in the liver, spleen and lungs following i.p. infection of mice with vesicular stomatitis virus (VSV)

• increased Ifnb mRNA levels in peritoneal macrophages following stimulation with LPS

increased interleukin-1 beta secretion ( J:271836 )

• increased Il1b mRNA levels in peritoneal macrophages following infection with VSV or stimulation with LPS

increased interleukin-6 secretion ( J:271836 )

• increased Il6 mRNA levels in peritoneal macrophages following infection with VSV or stimulation with LPS

increased tumor necrosis factor secretion ( J:271836 )

• increased Tnf mRNA levels in peritoneal macrophages following infection with VSV or stimulation with LPS

abnormal innate immunity ( J:271836 )

• mice exhibit an enhanced antiviral innate response against VSV infection relative to wild-type controls

abnormal macrophage physiology ( J:271836 )

• peritoneal macrophages show increased protein expression of antiviral molecules (MAVS, TRAF3 and TRAF6) and VSV infection-induced phosphorylation of TBK1

increased macrophage cytokine production ( J:271836 )

• peritoneal macrophages show a greater increase in inflammatory cytokine (Il6, Tnf and Il1b) and Ifnb production following infection with VSV or stimulation with LPS

decreased susceptibility to Riboviria infection ( J:271836 )

• following i.p. VSV infection, mice exhibit a lower viral burden, less viral-infection-mediated pathology, and less infiltration of polymorphonuclear cells and interstitial pneumonitis in the lungs relative to VSV-infected wild-type controls

hematopoietic system

abnormal macrophage physiology ( J:271836 )

• peritoneal macrophages show increased protein expression of antiviral molecules (MAVS, TRAF3 and TRAF6) and VSV infection-induced phosphorylation of TBK1

increased macrophage cytokine production ( J:271836 )

• peritoneal macrophages show a greater increase in inflammatory cytokine (Il6, Tnf and Il1b) and Ifnb production following infection with VSV or stimulation with LPS

homeostasis/metabolism

increased circulating interferon-beta level ( J:271836 )

• increased serum IFN-beta level following i.p. vesicular stomatitis virus (VSV) infection

mortality/aging

mortality/aging ( J:271836 )

N • mice are viable and reach adulthood