Phenotypes associated with this allele

• Allele Symbol: Dido1^tm1Cmar
• Allele Name: targeted mutation 1, Carlos Martinez-A
• Allele ID: MGI:3603539
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dido1^tm1Cmar/Dido1^tm1Cmar	involves: 129S1/Sv * 129X1/SvJ	MGI:3604722
ht2	Dido1^tm1Cmar/Dido1^+	involves: 129S1/Sv * 129X1/SvJ	MGI:3604723
ht3	Dido1^tm1Cmar/Dido1^tm2Cmar	involves: 129S1/Sv * 129X1/SvJ	MGI:5318888

Genotype
MGI:3604722

hm1

• Allelic Composition: Dido1^tm1Cmar/Dido1^tm1Cmar
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

hematopoietic system

hematopoietic system phenotype ( J:101201 )

N • the myelodysplastic/myeloproliferative disease caused by this targeted mutation can be transferred by bone marrow transplantation

increased spleen weight ( J:101201 )

• increased splenic weight by 7 to 8 months of age in 73% of those mice showing disease

spleen hyperplasia ( J:101201 )

abnormal erythropoiesis ( J:101201 )

• Ter119 dim erythroid cells are found in the spleen indicative of immauture erythrocytic progenitors

anemia ( J:101201 )

• 47.8% of diseased mice have anemia

abnormal bone marrow cell morphology/development ( J:101201 )

• increased bone marrow monocytic population with a decreased percentage of mature erythroid progenitors in some affected mice

• altered bone marrow granulocyte-macrophage progenitors such that more clusters than colonies were observed in appropriately cultured bone marrow from diseased mice

increased megakaryocyte cell number ( J:101201 )

• large numbers of megakaryocytes in the bone marrow of some affected mice along with some cells with atypical nuclei

abnormal proerythroblast morphology ( J:101201 )

increased erythrocyte cell number ( J:101201 )

increased granulocyte number ( J:101201 )

• 26.1% of diseased mice show granulocytosis

• increased bone marrow granulocytes in some affected mice

increased monocyte cell number ( J:101201 )

• 17.4% of diseased mice show monocytosis in the peripheral blood

• increased bone marrow monocytic population

increased spleen white pulp amount ( J:101201 )

• increased white pulp results in destruction of splenic architecture in some homozygotes

abnormal splenic cell ratio ( J:101201 )

• increased numbers of splenic granulocytes, monocytes, or erythroid cells in some affected animals

abnormal splenocyte morphology ( J:101201 )

• atypical nuclei in some splenocytes characteristic of dysplasia

immune system

immune system phenotype ( J:101201 )

N • bone marrow has normal Sca1, KIT, CD41, and CD34 expression

increased spleen weight ( J:101201 )

• increased splenic weight by 7 to 8 months of age in 73% of those mice showing disease

spleen hyperplasia ( J:101201 )

increased granulocyte number ( J:101201 )

• 26.1% of diseased mice show granulocytosis

• increased bone marrow granulocytes in some affected mice

increased monocyte cell number ( J:101201 )

• 17.4% of diseased mice show monocytosis in the peripheral blood

• increased bone marrow monocytic population

increased spleen white pulp amount ( J:101201 )

• increased white pulp results in destruction of splenic architecture in some homozygotes

abnormal splenic cell ratio ( J:101201 )

• increased numbers of splenic granulocytes, monocytes, or erythroid cells in some affected animals

abnormal splenocyte morphology ( J:101201 )

• atypical nuclei in some splenocytes characteristic of dysplasia

cellular

cellular phenotype ( J:101201 )

N • normal splenic TUNEL staining indicative of normal apoptosis in spleen

reproductive system

reduced female fertility ( J:101201 )

♀ • severely reduced fertility

reduced male fertility ( J:101201 )

♂ • severely reduced fertility

growth/size/body

increased spleen weight ( J:101201 )

• increased splenic weight by 7 to 8 months of age in 73% of those mice showing disease

spleen hyperplasia ( J:101201 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myelodysplastic/myeloproliferative neoplasm		DOID:4972		J:101201

Genotype
MGI:3604723

ht2

• Allelic Composition: Dido1^tm1Cmar/Dido1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

hematopoietic system

increased spleen weight ( J:101201 )

• increased splenic weight by 7 to 8 months of age in a high percentage of diseased mice

spleen hyperplasia ( J:101201 )

abnormal bone marrow cell morphology/development ( J:101201 )

• increased bone marow monocytic population with a decreased percentage of mature erythroid progenitors in some affected mice

• increased bone marrow granulocytes in some affected mice

• altered bone marrow granulocyt-macrophage progenitors such that more clusters than colonies are observed in appropriately cultured bone marrow from diseased mice

increased granulocyte number ( J:101201 )

• granulocytosis in many diseased mice

increased monocyte cell number ( J:101201 )

• monocytosis in many diseased mice

• increased monocyte count in some affected mice

abnormal splenic cell ratio ( J:101201 )

• increased numbers of splenic granulocytes, monocytes, or erythroid cells in some affected animals

abnormal splenocyte morphology ( J:101201 )

• atypical nuclei in some splenocytes characteristic of dysplasia

immune system

increased spleen weight ( J:101201 )

• increased splenic weight by 7 to 8 months of age in a high percentage of diseased mice

spleen hyperplasia ( J:101201 )

increased granulocyte number ( J:101201 )

• granulocytosis in many diseased mice

increased monocyte cell number ( J:101201 )

• monocytosis in many diseased mice

• increased monocyte count in some affected mice

abnormal splenic cell ratio ( J:101201 )

• increased numbers of splenic granulocytes, monocytes, or erythroid cells in some affected animals

abnormal splenocyte morphology ( J:101201 )

• atypical nuclei in some splenocytes characteristic of dysplasia

growth/size/body

increased spleen weight ( J:101201 )

• increased splenic weight by 7 to 8 months of age in a high percentage of diseased mice

spleen hyperplasia ( J:101201 )

Genotype
MGI:5318888

ht3

• Allelic Composition: Dido1^tm1Cmar/Dido1^tm2Cmar
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

mortality/aging

prenatal lethality, incomplete penetrance ( J:183346 )

• not born at the expected Mendelian frequency but survivors are viable

cellular

abnormal centrosome morphology ( J:183346 )

• centrosome amplification in MEFs

abnormal chromosome morphology ( J:183346 )

• structural abnormalities are seen in aneuploid MEFs

aneuploidy ( J:183346 )

• MEFs show about a 2 fold increase in aneuploid cells

abnormal mitosis ( J:183346 )

• premature sister chromatid exchange in MEFs