Phenotypes Associated with This Genotype

Genotype
MGI:4942360

• Allelic Composition: Tg(Kit*D814V)1Roer/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 )

• some mice, regardless of pIpC treatment, die or are euthanized due to severe disease between 15 and 35 weeks of age

digestive/alimentary system

abnormal feces composition ( J:169611 )

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

diarrhea ( J:169611 )

• in mice with intestinal inflammation

crypts of Lieberkuhn abscesses ( J:169611 )

• numerous neutrophilic crypt abscesses are detected in several mice with intestinal inflammation

abnormal large intestine morphology ( J:169611 )

• inflammation results in extensive destruction of the mucosa with crypts separated from each other and from the lamina muscularis propria by the infiltrating cells

• outside of inflammatory lesions the colonic mucosa appears normal with the exception of an increase in mast cell numbers

rectal prolapse ( J:169611 )

• in mice with intestinal inflammation

large intestinal inflammation ( J:169611 )

• in all mice, regardless of pIpC treatment

• severity of inflammation varies and severe inflammation is more common in older mice

• inflammatory changes affect sharply demarcated patches of the mucosa and in most mice occur in long stretches of the mucosa

• most lesions are found in the cecum and ascending colon

• lesions are characterized by a massive infiltration of T cells, B cells, macrophages, and neutrophils with high numbers of mast cells found in the crypt epithelium surrounding the lesion

• the surface epithelium shows erosions in several mice

colitis ( J:169611 )

small intestinal inflammation ( J:169611 )

• in a few mice, regardless of pIpC treatment

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 and/or spleen

• 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

increased chronic myelocytic leukemia incidence ( J:169611 )

• in 1 pIpC treated mouse

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 all mice, regardless of pIpC treatment

• severity of inflammation varies and severe inflammation is more common in older mice

• inflammatory changes affect sharply demarcated patches of the mucosa and in most mice occur in long stretches of the mucosa

• most lesions are found in the cecum and ascending colon

• lesions are characterized by a massive infiltration of T cells, B cells, macrophages, and neutrophils with high numbers of mast cells found in the crypt epithelium surrounding the lesion

• the surface epithelium shows erosions in several mice

colitis ( J:169611 )

small intestinal inflammation ( J:169611 )

• in a few mice, regardless of pIpC treatment

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 and/or spleen

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

endocrine/exocrine glands

crypts of Lieberkuhn abscesses ( J:169611 )

• numerous neutrophilic crypt abscesses are detected in several mice with intestinal inflammation

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