Phenotypes Associated with This Genotype

Genotype
MGI:5696385

• Allelic Composition: Tg(Cd74-Nlrc4*)1Kyas/0
• Genetic Background: involves: C57BL/6N

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

immune system

increased neutrophil cell number ( J:219652 )

• mice show increased numbers of CD11b+Gr1+ neutrophils

• most cells that produce Il17a are neutrophils

increased T cell number ( J:219652 )

• mice how increased numbers of activated T cells

abnormal spleen morphology ( J:219652 )

• spleen shows a 15-fold increase in the number of CD11b+Gr1+F4/80- cells

enlarged spleen ( J:219652 )

increased splenocyte number ( J:219652 )

• total cell number in the spleen in about 5-fold higher than in controls

increased circulating interleukin-1 beta level ( J:219652 )

increased circulating interleukin-17 level ( J:219652 )

• serum levels of interleukin-17A are increased

increased interleukin-1 beta secretion ( J:219652 )

• splenocytes produce increased levels of interleukin-1 beta when stimulated with LPS

• cooling of the whole body at 4 degrees Celcius for 1 minute increases interleukin-1 beta levels in mutants but not controls

increased inflammatory response ( J:219652 )

• exposure of footpads to cold results in increased thickness and exanthema-like color change, indicating increased inflammation in response to cold

joint inflammation ( J:219652 )

• severe cell infiltration in the joints

autoimmune arthritis ( J:219652 )

• severe cell infiltration in the joints and erosion of the bone

skin inflammation ( J:219652 )

• severe cell infiltration in the skin

dermatitis ( J:219652 )

• mice exhibit dermatitis starting at 3 weeks of age

• mice exposed to a cold stimulus exhibit increased inflammation and develop an urticarial-like dermatitis

homeostasis/metabolism

increased circulating interleukin-1 beta level ( J:219652 )

increased circulating interleukin-17 level ( J:219652 )

• serum levels of interleukin-17A are increased

joint swelling ( J:219652 )

• mice exhibit swollen joints starting at 3 weeks of age

hematopoietic system

increased neutrophil cell number ( J:219652 )

• mice show increased numbers of CD11b+Gr1+ neutrophils

• most cells that produce Il17a are neutrophils

increased T cell number ( J:219652 )

• mice how increased numbers of activated T cells

abnormal spleen morphology ( J:219652 )

• spleen shows a 15-fold increase in the number of CD11b+Gr1+F4/80- cells

enlarged spleen ( J:219652 )

increased splenocyte number ( J:219652 )

• total cell number in the spleen in about 5-fold higher than in controls

integument

skin inflammation ( J:219652 )

• severe cell infiltration in the skin

dermatitis ( J:219652 )

• mice exhibit dermatitis starting at 3 weeks of age

• mice exposed to a cold stimulus exhibit increased inflammation and develop an urticarial-like dermatitis

skeleton

joint swelling ( J:219652 )

• mice exhibit swollen joints starting at 3 weeks of age

joint inflammation ( J:219652 )

• severe cell infiltration in the joints

autoimmune arthritis ( J:219652 )

• severe cell infiltration in the joints and erosion of the bone

growth/size/body

enlarged spleen ( J:219652 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial cold autoinflammatory syndrome 4		DOID:0090065	OMIM:616115	J:219652