Phenotypes associated with this allele

• Allele Symbol: Npm1^tm1Hft
• Allele Name: targeted mutation 1, Hwei-Fang Tien
• Allele ID: MGI:5478640
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Npm1^tm1Hft/Npm1^tm1Hft	involves: 129	MGI:5478729
ht2	Npm1^tm1Hft/Npm1^+	involves: 129	MGI:5478730

Genotype
MGI:5478729

hm1

• Allelic Composition: Npm1^tm1Hft/Npm1^tm1Hft
• Genetic Background: involves: 129

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

mortality/aging

embryonic lethality, complete penetrance ( J:194999 )

• mice die before E8.5

Genotype
MGI:5478730

ht2

• Allelic Composition: Npm1^tm1Hft/Npm1⁺
• Genetic Background: involves: 129

Splenomegaly and follicle structure changes in Npm1^tm1Hft/Npm1⁺ mice

hematopoietic system

hematopoietic system phenotype ( J:194999 )

N • mice exhibit normal red cell volumes, red blood cell count, hemoglobin and mean platelet volume

abnormal granulocyte differentiation ( J:194999 )

• mice without MPD exhibit increased granulocyte-macrophage progenitors compared with wild-type mice

enlarged spleen ( J:194999 )

• in mice with myeloproliferative disease

increased spleen weight ( J:194999 )

• in mice with myeloproliferative disease

myeloid hyperplasia ( J:194999 )

• some mice exhibit myeloproliferative disease (MPD) features

• mice without MPD exhibit still myeloid expansion

extramedullary hematopoiesis ( J:194999 )

• in mice with myeloproliferative disease with megakaryocyte infiltration

abnormal bone marrow cell morphology/development ( J:194999 )

• the bone marrow of mice without MPD exhibits expansion of myeloid compartment with an increase in HSPC and progenitor cells compared with wild-type mice

• mice with or without MPD exhibit age-dependent compromised cobblestone area formation compared with wild-type cells

abnormal common myeloid progenitor cell morphology ( J:194999 )

• increased colony forming units from the bone marrow of mice with MPD

• increased progenitor cells in the bone marrow of mice without MPD

thrombocytosis ( J:194999 )

• in some mice late in life

increased leukocyte cell number ( J:194999 )

• in some mice at various stages

increased granulocyte number ( J:194999 )

• mature granulocytes in in the blood and bone marrow of mice with myeloproliferative disease

increased monocyte cell number ( J:194999 )

• in the peripheral blood of mice without MPD after age 17 to 18 months

increased hematopoietic stem cell number ( J:194999 )

• in the bone marrow of mice without MPD

abnormal spleen B cell follicle morphology ( J:194999 )

• mice with myeloproliferative disease exhibit effacement of follicle structure in the spleen

immune system

abnormal granulocyte differentiation ( J:194999 )

• mice without MPD exhibit increased granulocyte-macrophage progenitors compared with wild-type mice

enlarged spleen ( J:194999 )

• in mice with myeloproliferative disease

increased spleen weight ( J:194999 )

• in mice with myeloproliferative disease

myeloid hyperplasia ( J:194999 )

• some mice exhibit myeloproliferative disease (MPD) features

• mice without MPD exhibit still myeloid expansion

increased leukocyte cell number ( J:194999 )

• in some mice at various stages

increased granulocyte number ( J:194999 )

• mature granulocytes in in the blood and bone marrow of mice with myeloproliferative disease

increased monocyte cell number ( J:194999 )

• in the peripheral blood of mice without MPD after age 17 to 18 months

abnormal spleen B cell follicle morphology ( J:194999 )

• mice with myeloproliferative disease exhibit effacement of follicle structure in the spleen

cellular

abnormal granulocyte differentiation ( J:194999 )

• mice without MPD exhibit increased granulocyte-macrophage progenitors compared with wild-type mice

neoplasm

neoplasm ( J:194999 )

N • mice do not develop acute myeloid leukemia

growth/size/body

enlarged spleen ( J:194999 )

• in mice with myeloproliferative disease

increased spleen weight ( J:194999 )

• in mice with myeloproliferative disease

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	acute myeloid leukemia	DOID:9119	OMIM:601626	J:194999