Phenotypes associated with this allele

• Allele Symbol: Tg(Kit*D814V)1Roer
• Allele Name: transgene insertion 1, Axel Roers
• Allele ID: MGI:4942357
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tg(CMV-cre)1Cgn/0 Tg(Kit*D814V)1Roer/0	involves: BALB/cJ * C57BL/6	MGI:4942365
cn2	Tg(Cma1-cre)ARoer/0 Tg(Kit*D814V)1Roer/0	involves: C57BL/6	MGI:4942363
cn3	Tg(Kit*D814V)1Roer/0 Commd10^Tg(Vav1-icre)A2Kio/Commd10^+	involves: C57BL/6 * C57BL/10 * CBA/Ca	MGI:4942367
cn4	Tg(Kit*D814V)1Roer/0 Tg(Mx1-cre)1Cgn/0	involves: C57BL/6 * CBA	MGI:4942360

Genotype
MGI:4942365

cn1

• Allelic Composition: Tg(CMV-cre)1Cgn/0; Tg(Kit*D814V)1Roer/0
• Genetic Background: involves: BALB/cJ * C57BL/6

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

mortality/aging

decreased survivor rate ( J:169611 )

• only about 25% of mice survive to adulthood

• surviving mice show signs of spontaneous regression of the hyperproliferative dysregulation of erythropoiesis

neonatal lethality, incomplete penetrance ( J:169611 )

• rapid lethality in about 75% of neonatal mice

digestive/alimentary system

large intestinal inflammation ( J:169611 )

• survivors develop intestinal inflammation similar to that in mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

hematopoietic system

abnormal erythropoiesis ( J:169611 )

• mice appear to die of hyperproliferative dysregulation of erythropoiesis

increased nucleated erythrocyte cell number ( J:169611 )

• dramatic dysregulation of hematopoiesis characterized by excessive numbers of nucleated cells in the peripheral blood

• increase in nucleated cells is primarily the result of a population of small blastic cells with sparse cytoplasm

increased mast cell number ( J:169611 )

• survivors develop mastocytosis similar to that in mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

abnormal erythrocyte physiology ( J:169611 )

• increase in the number of nuclear shadows in blood smears indicates the presence of cells with increased mechanical fragility

liver/biliary system

abnormal liver morphology ( J:169611 )

• most of the liver parenchyma is replaced with Ter119+ cells

immune system

large intestinal inflammation ( J:169611 )

• survivors develop intestinal inflammation similar to that in mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

increased mast cell number ( J:169611 )

• survivors develop mastocytosis similar to that in mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

Genotype
MGI:4942363

cn2

• Allelic Composition: Tg(Cma1-cre)ARoer/0; Tg(Kit*D814V)1Roer/0
• Genetic Background: involves: C57BL/6

digestive/alimentary system

colitis ( J:169611 )

• all mice develop intestinal inflammation similar to that in mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

hematopoietic system

increased mast cell number ( J:169611 )

• develop mastocytosis similar to that in mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

• accumulation of mast cells in the skin and in some cases also in the spleen

• disease symptoms occur later and disease progression is slower compared to mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

neoplasm

increased skin tumor incidence ( J:169611 )

• mast cell tumors are seen in some mice

immune system

colitis ( J:169611 )

• all mice develop intestinal inflammation similar to that in mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

increased mast cell number ( J:169611 )

• develop mastocytosis similar to that in mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

• accumulation of mast cells in the skin and in some cases also in the spleen

• disease symptoms occur later and disease progression is slower compared to mice carrying Tg(Kit*D814V)1Roer and Tg(Mx1-cre)1Cgn

integument

increased skin tumor incidence ( J:169611 )

• mast cell tumors are seen in some mice

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

Genotype
MGI:4942367

cn3

• Allelic Composition: Tg(Kit*D814V)1Roer/0; Commd10^{Tg(Vav1-icre)A2Kio}/Commd10⁺
• Genetic Background: involves: C57BL/6 * C57BL/10 * CBA/Ca

mortality/aging

neonatal lethality ( J:169611 )

• similar to the phenotype in mice carrying Tg(CMV-cre)1Cgn and Tg(Kit*D814V)1Roer

Genotype
MGI:4942360

cn4

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

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