Phenotypes Associated with This Genotype

Genotype
MGI:4942362

• Allelic Composition: Tg(Kit*D814V)3Roer/0; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: C57BL/6 * CBA

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

mortality/aging

premature death ( J:169611 )

• 1 pIpC treated mouse was euthanized due to severe disease at 12 weeks of age

digestive/alimentary system

rectal prolapse ( J:169611 )

• in mice with intestinal inflammation

diarrhea ( J:169611 )

• in mice with intestinal inflammation

abnormal feces composition ( J:169611 )

• diarrhea with bloody feces is seen in mice with intestinal inflammation

large intestinal inflammation ( J:169611 )

• in a few mice, regardless of pIpC treatment

colitis ( J:169611 )

• rare

hematopoietic system

enlarged spleen ( J:169611 )

• in mice with leukemia

abnormal mast cell morphology ( J:169611 )

• most of the mast cells in pIpC treated mice with mastocytosis are round with some degree of hypergranulation and only few spindle shaped cells are seen

increased mast cell number ( J:169611 )

• mice treated with 3 injections of pIpC every second day at 4 to 10 weeks of age develop diffuse mastocytosis by 13 - 38 weeks of age

• pIpC treated mice display a variable increase in cutaneous mast cell numbers

• in some pIpC treated mice accumulations of mast cells are seen in the lymph nodes

• mice not treated with pIpC develop phenotypes similar to those in pIpC injected mice

abnormal bone marrow cell physiology ( J:169611 )

• bone marrow cells are unable to engraft in nonirradiated recipient mice

neoplasm

increased skin tumor incidence ( J:169611 )

• some pIpC treated mice develop large numbers of dermal mast cell tumors of variable size

• in a few mice these tumors are macroscopically visible

• mice not treated with pIpC develop phenotypes similar to those in pIpC injected mice

increased leukemia incidence ( J:169611 )

• some mice, regardless of pIpC treatment, develop a condition resembling B-lymphoblastic leukemia

growth/size/body

weight loss ( J:169611 )

• in mice with intestinal inflammation

enlarged spleen ( J:169611 )

• in mice with leukemia

integument

increased skin tumor incidence ( J:169611 )

• some pIpC treated mice develop large numbers of dermal mast cell tumors of variable size

• in a few mice these tumors are macroscopically visible

• mice not treated with pIpC develop phenotypes similar to those in pIpC injected mice

immune system

large intestinal inflammation ( J:169611 )

• in a few mice, regardless of pIpC treatment

colitis ( J:169611 )

• rare

enlarged spleen ( J:169611 )

• in mice with leukemia

abnormal mast cell morphology ( J:169611 )

• most of the mast cells in pIpC treated mice with mastocytosis are round with some degree of hypergranulation and only few spindle shaped cells are seen

increased mast cell number ( J:169611 )

• mice treated with 3 injections of pIpC every second day at 4 to 10 weeks of age develop diffuse mastocytosis by 13 - 38 weeks of age

• pIpC treated mice display a variable increase in cutaneous mast cell numbers

• in some pIpC treated mice accumulations of mast cells are seen in the lymph nodes

• mice not treated with pIpC develop phenotypes similar to those in pIpC injected mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
mastocytosis		DOID:350	OMIM:154800	J:169611