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Phenotypes Associated with This Genotype
Genotype
MGI:5544056
Allelic
Composition
Nf1tm1Par/Nf1tm1Par
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nf1tm1Par mutation (4 available); any Nf1 mutation (20 available)
Tg(Mx1-cre)1Cgn mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 50% of pIpC treated mice die by 7.5 months of age

hematopoietic system
• pIpC injected mice at 3 to 5 days of age develop overt signs of myeloproliferative disease beginning between 5 and 6 months of age
• pIpC injected mice show a shift in hematopoiesis from the marrow to the spleen
• myeloid progenitors from pIpC injected mice show increased proliferation
• spleen from pIpC injected mice shows a massive increase in myelopoiesis
• apoptosis is reduced in the bone marrow of pIpC injected mice
• bone marrow from pIpC injected mice is highly cellular, comprised of myeloid cells at various stages of differentiation
• increase in numbers of immature monocytic cells in the bone marrow of pIpC treated mice
• bone marrow from pIpC injected mice contains elevated numbers of CFU-GM and an increase in the numbers of CFU-GM that are hypersensitive to granulocyte-macrophage colony stimulating factor (GM-CSF) and CFU-GM colonies are larger than normal and show abnormal spreading morphology
• pIpC injected mice at 3 to 5 days of age exhibit elevated numbers of differentiated lymphoid cells by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit elevated leukocyte counts by 3 months of age
• cultures from pIpC injected mice show an increase in the percentage of monocyte-macrophage cells
• pIpC injected mice show an increase in numbers of differentiated granulocytic cells
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal neutrophils by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal lymphocytes by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal monocytes by 3 months of age
• pIpC injected mice show an increase in numbers of immature monocytic cells in the bone marrow
• pIpC injected mice at 3 to 5 days of age exhibit elevated numbers of differentiated myeloid cells by 3 months of age
• spleens from pIpC injected mice contain large numbers of CFU-GM
• pIpC injected mice at 3 to 5 days of age exhibit progressive splenomegaly with extensive infiltration of myeloid cells at various stages of maturation

behavior/neurological
• pIpC injected mice at 3 to 5 days of age exhibit abnormal gait by 5-6 months of age
• pIpC injected mice at 3 to 5 days of age exhibit hunching by 5-6 months of age

immune system
• spleen from pIpC injected mice shows a massive increase in myelopoiesis
• pIpC injected mice at 3 to 5 days of age exhibit elevated leukocyte counts by 3 months of age
• cultures from pIpC injected mice show an increase in the percentage of monocyte-macrophage cells
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal lymphocytes by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit elevated numbers of differentiated myeloid cells by 3 months of age
• pIpC injected mice show an increase in numbers of differentiated granulocytic cells
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal neutrophils by 3 months of age
• pIpC injected mice at 3 to 5 days of age exhibit increased numbers of morphologically normal monocytes by 3 months of age
• pIpC injected mice show an increase in numbers of immature monocytic cells in the bone marrow
• spleens from pIpC injected mice contain large numbers of CFU-GM
• pIpC injected mice at 3 to 5 days of age exhibit progressive splenomegaly with extensive infiltration of myeloid cells at various stages of maturation

integument
• pIpC injected mice at 3 to 5 days of age have a disheveled appearance by 5-6 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
juvenile myelomonocytic leukemia DOID:0050458 OMIM:607785
J:90973


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/18/2020
MGI 6.14
The Jackson Laboratory