Phenotypes associated with this allele

• Allele Symbol: Smap1^tm1.1Sata
• Allele Name: targeted mutation 1.1, Masanobu Satake
• Allele ID: MGI:5503229
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smap1^tm1.1Sata/Smap1^tm1.1Sata	B6.Cg-Smap1^tm1.1Sata	MGI:5503231
cx2	Smap1^tm1.1Sata/Smap1^tm1.1Sata Smap2^tm1Sata/Smap2^tm1Sata	involves: 129P2/OlaHsd * C57BL/6NCrlj * CBA/JNCrlj	MGI:5762697

Genotype
MGI:5503231

hm1

• Allelic Composition: Smap1^tm1.1Sata/Smap1^tm1.1Sata
• Genetic Background: B6.Cg-Smap1^tm1.1Sata

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

Hematological abnormalities in Smap1^tm1.1Sata/Smap1^tm1.1Sata mice

growth/size/body

enlarged liver ( J:196385 )

• in mice with acute myeloid leukemia

enlarged spleen ( J:196385 )

• in mice with myelodysplastic syndrome

• in mice with acute myeloid leukemia

hematopoietic system

enlarged spleen ( J:196385 )

• in mice with myelodysplastic syndrome

• in mice with acute myeloid leukemia

abnormal blood cell morphology/development ( J:196385 )

• peripheral blood contains polychromatic erythrocytes, Howell-Jolly bodies, erythroblasts, giant platelets, micromegakaryocytes and hypersegmented neutrophils

abnormal myelopoiesis ( J:196385 )

• myelodysplastic syndrome in some mice

anemia ( J:196385 )

• macrocytic and normochromatic anemia in half of aged mice

macrocytic anemia ( J:196385 )

• in anemic mice

abnormal bone marrow cell morphology/development ( J:196385 )

• bone marrow contains megaloblasts and binucleated basophilic erythroblasts, basophilic erythroblasts with cytoplasmic blebs and pseudo-Pelger-Huet neutrophils, multinucleated polychromatic megaloblasts, orthochromatic erythroblasts with fragmented nuclei and megakaryocytes with hypolobulated nuclei

increased bone marrow cell number ( J:196385 )

abnormal megakaryocyte morphology ( J:196385 )

• micromegakaryocytes

increased erythroid progenitor cell number ( J:196385 )

• 1.8-fold in the bone marrow of mice older than 1 year of age

abnormal proerythroblast morphology ( J:196385 )

• increased in the bone marrow

abnormal erythrocyte morphology ( J:196385 )

increased erythrocyte cell number ( J:196385 )

• erythroid hyperplasia in 7 of 10 mice

decreased hematocrit ( J:196385 )

• in anemic mice

decreased hemoglobin content ( J:196385 )

• in anemic mice

increased mean corpuscular volume ( J:196385 )

• in anemic mice

increased number of Howell-Jolly bodies ( J:196385 )

polychromatophilia ( J:196385 )

abnormal neutrophil morphology ( J:196385 )

• hypersegmented

increased neutrophil cell number ( J:196385 )

• 1.8-fold in the bone marrow of mice older than 1 year of age

abnormal platelet morphology ( J:196385 )

• increased size

thrombocytopenia ( J:196385 )

reticulocytosis ( J:196385 )

• in anemic mice

behavior/neurological

weakness ( J:196385 )

• in ill mice

abnormal posture ( J:196385 )

• shrunk posture in ill mice

decreased locomotor activity ( J:196385 )

• in ill mice

neoplasm

increased leukemia incidence ( J:196385 )

• acute myeloid leukemia (erythroid and monocytic) in 5 of 33 mice

liver/biliary system

enlarged liver ( J:196385 )

• in mice with acute myeloid leukemia

cellular

abnormal endocytosis ( J:196385 )

• cells exhibit enhanced endocytosis of transferrin compared with wild-type cells

immune system

enlarged spleen ( J:196385 )

• in mice with myelodysplastic syndrome

• in mice with acute myeloid leukemia

abnormal myelopoiesis ( J:196385 )

• myelodysplastic syndrome in some mice

abnormal neutrophil morphology ( J:196385 )

• hypersegmented

increased neutrophil cell number ( J:196385 )

• 1.8-fold in the bone marrow of mice older than 1 year of age

Genotype
MGI:5762697

cx2

• Allelic Composition: Smap1^tm1.1Sata/Smap1^tm1.1Sata; Smap2^tm1Sata/Smap2^tm1Sata
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrlj * CBA/JNCrlj

mortality/aging

embryonic lethality, complete penetrance ( J:226700 )

• embryonic lethality is triggered around E7.5-8.5, with no viable double homozygous mutant pups recovered at weaning (P21)

embryo

increased embryonic tissue cell apoptosis ( J:226700 )

• TUNEL assays showed increased apoptosis in distal embryonic tissues at E7.5

embryonic growth arrest ( J:226700 )

• although double homozygous mutant embryos implant and develop into egg cylinders, they appear degenerated at both E8.5 and E10.5

disorganized embryonic tissue ( J:226700 )

• DAPI staining of E7.5 egg cylinders showed disorganization of embryonic structures, esp. in the distal region

cellular

increased embryonic tissue cell apoptosis ( J:226700 )

• TUNEL assays showed increased apoptosis in distal embryonic tissues at E7.5