Phenotypes Associated with This Genotype

Genotype
MGI:6192275

• Allelic Composition: Braf^tm1Mmcm/Braf^tm1Mmcm; Tg(Itgax-cre)1-1Reiz/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

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

mortality/aging

premature death ( J:211690 )

• decrease in lifespan

immune system

hepatosplenomegaly ( J:211690 )

• severe hepatosplenomegaly

increased dendritic cell number ( J:211690 )

• lesions are associated with massive increase of MHC II+CD11c+ dendritic cells

• expansion of blood circulating dendritic cell precursors and blood circulating dendritic cells

enlarged lymph nodes ( J:211690 )

granulomatous inflammation ( J:211690 )

• histiocytic infiltrates in the skin, liver, spleen, and lungs by 8 weeks of age, resulting in a broad destruction of tissue architecture by 16 weeks of age

• histiocytic lesions exhibit classical granulomatous organization, including multinucleated giant cell formation

• granuloma lesions contain massive CD11c+ langerin+ infiltrates, a large number of macrophages, NK cells, B cells, and T cells, with a specific accumulation of regulatory T cells

• local fibrotic response is seen within the granulomas and surrounding stroma

increased inflammatory response ( J:211690 )

• mice rapidly develop an aggressive Langerhans-cells histiocytosis-like disease with 100% penetrance

cytokine storm ( J:211690 )

• granuloma lesions are associated with an increase in several chemokines and cytokines (Ccl2, Ccl15, Il6, Il10, IFN-gamma, and TGF-beta) indicative of a local cytokine storm

hematopoietic system

hepatosplenomegaly ( J:211690 )

• severe hepatosplenomegaly

anemia ( J:211690 )

• severe anemia

increased dendritic cell number ( J:211690 )

• lesions are associated with massive increase of MHC II+CD11c+ dendritic cells

• expansion of blood circulating dendritic cell precursors and blood circulating dendritic cells

growth/size/body

hepatosplenomegaly ( J:211690 )

• severe hepatosplenomegaly

liver/biliary system

hepatosplenomegaly ( J:211690 )

• severe hepatosplenomegaly

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Langerhans-cell histiocytosis		DOID:2571	OMIM:246400 OMIM:604856	J:211690