Phenotypes associated with this allele

• Allele Symbol: Samd9l^tm1Homy
• Allele Name: targeted mutation 1, Hiroaki Honda
• Allele ID: MGI:5304359
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Samd9l^tm1Homy/Samd9l^tm1Homy	B6N.129P2-Samd9l^tm1Homy	MGI:5694935
hm2	Samd9l^tm1Homy/Samd9l^tm1Homy	involves: 129P2/OlaHsd	MGI:5308654
ht3	Samd9l^tm1Homy/Samd9l^+	involves: 129P2/OlaHsd	MGI:5308655
cx4	Abcc6^tm1Jfk/Abcc6^tm1Jfk Samd9l^tm1Homy/Samd9l^tm1Homy	B6.129-Samd9l^tm1Homy Abcc6^tm1Jfk	MGI:5695110

Genotype
MGI:5694935

hm1

• Allelic Composition: Samd9l^tm1Homy/Samd9l^tm1Homy
• Genetic Background: B6N.129P2-Samd9l^tm1Homy

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

neoplasm

increased leukemia incidence ( J:225110 )

• mice develop acute myeloid leukemia at high frequency after 20 months of age

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:225110 )

N • mice do not show any evidence of ectopic mineralization at 8 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	normophosphatemic familial tumoral calcinosis	DOID:0080170	OMIM:610455	J:225110

Genotype
MGI:5308654

hm2

• Allelic Composition: Samd9l^tm1Homy/Samd9l^tm1Homy
• Genetic Background: involves: 129P2/OlaHsd

neoplasm

increased leukemia incidence ( J:180923 , J:202604 )

• high incidence of acute myelogenous leukemia in mice over 20 months (J:180923)

• 1 of 15 mice show myeloid leukemia (J:202604)

• Moloney murine leukemia virus infected mice show myeloid leukemias of various types such as immature myeloid leukemia, myelomonocytic leukemia, and monocytic leukemia (J:202604)

increased tumor incidence following infection ( J:202604 )

• Moloney murine leukemia virus infected mice show myeloid leukemias of various types such as immature myeloid leukemia, myelomonocytic leukemia, and monocytic leukemia

hematopoietic system

enlarged spleen ( J:202604 )

• enlarged spleen is some mice after 12 months of age

abnormal definitive hematopoiesis ( J:202604 )

• mice developing cytopenia show bone marrow with normal or increased cellularity

abnormal erythropoiesis ( J:202604 )

• bone marrow frequently shows erythroid and/or myeloid maturation arrest

abnormal myelopoiesis ( J:202604 )

• 8 of 15 mice show myeloid dysplasia

• mice with enlarged spleen show increased proliferation of Gr1/Mac-1-positive myeloid cells

• myelodysplasia including Pseudo-Pelger-Huet anomaly, hypersegmented neutrophils, erythroblasts with abnormal nuclei, Howell-Jolly body, polychromasia, anisopoikilocytosis, giant platelets, and megakaryocytes with round shape nuclei

• bone marrow frequently shows erythroid and/or myeloid maturation arrest

anemia ( J:202604 )

• some mice develop anemia after 12 months of age, with normal or increased white blood cell counts

increased bone marrow cell number ( J:202604 )

• some mice that develop cytopenia show bone marrow with increased cellularity

• bone marrow progenitors from young and old old mice maintain colony formation potential with replating unlike control progenitors

abnormal megakaryocyte morphology ( J:202604 )

• megakaryocytes with round shape nuclei

abnormal erythroblast morphology ( J:202604 )

• erythroblasts with abnormal nuclei

anisopoikilocytosis ( J:202604 )

increased number of Howell-Jolly bodies ( J:202604 )

polychromatophilia ( J:202604 )

abnormal neutrophil morphology ( J:202604 )

• hypersegmented neutrophils

decreased neutrophil cell number ( J:202604 )

• some mice develop neutropenia after 12 months of age

giant platelets ( J:202604 )

increased leukocyte cell number ( J:202604 )

• some mice that develop anemia show increased white blood cell counts

immune system

enlarged spleen ( J:202604 )

• enlarged spleen is some mice after 12 months of age

abnormal myelopoiesis ( J:202604 )

• 8 of 15 mice show myeloid dysplasia

• mice with enlarged spleen show increased proliferation of Gr1/Mac-1-positive myeloid cells

• myelodysplasia including Pseudo-Pelger-Huet anomaly, hypersegmented neutrophils, erythroblasts with abnormal nuclei, Howell-Jolly body, polychromasia, anisopoikilocytosis, giant platelets, and megakaryocytes with round shape nuclei

• bone marrow frequently shows erythroid and/or myeloid maturation arrest

abnormal neutrophil morphology ( J:202604 )

• hypersegmented neutrophils

decreased neutrophil cell number ( J:202604 )

• some mice develop neutropenia after 12 months of age

increased leukocyte cell number ( J:202604 )

• some mice that develop anemia show increased white blood cell counts

increased susceptibility to Retroviridae infection ( J:202604 )

• 10 of 12 newborns injected with a Moloney murine leukemia virus derivative, MOL4070A, die of nonlymphoid hematopoietic neoplasms much sooner than mice that develop spontaneous myeloid malignancies or infected wild-type mice

mortality/aging

premature death ( J:202604 )

• mice die of myeloid disease

growth/size/body

enlarged spleen ( J:202604 )

• enlarged spleen is some mice after 12 months of age

Genotype
MGI:5308655

ht3

• Allelic Composition: Samd9l^tm1Homy/Samd9l⁺
• Genetic Background: involves: 129P2/OlaHsd

neoplasm

increased leukemia incidence ( J:180923 , J:202604 )

• high incidence of acute myelogenous leukemia in mice over 20 months (J:180923)

• 1 of 19 mice show myeloid leukemia (J:202604)

• Moloney murine leukemia virus infected mice show myeloid leukemias of various types such as immature myeloid leukemia, myelomonocytic leukemia, and monocytic leukemia (J:202604)

increased tumor incidence following infection ( J:202604 )

• Moloney murine leukemia virus infected mice show myeloid leukemias of various types such as immature myeloid leukemia, myelomonocytic leukemia, and monocytic leukemia

hematopoietic system

enlarged spleen ( J:202604 )

• in some mice after 12 months of age

abnormal definitive hematopoiesis ( J:202604 )

• mice developing cytopenia show bone marrow with normal or increased cellularity

abnormal erythropoiesis ( J:202604 )

• bone marrow frequently shows erythroid and/or myeloid maturation arrest

abnormal myelopoiesis ( J:202604 )

• 8 of 19 mice show myeloid dysplasia

• 1 of 19 mice show myeloproliferative disease

• mice with enlarged spleen show increased proliferation of Gr1/Mac-1-positive myeloid cells

• myelodysplasia including Pseudo-Pelger-Huet anomaly, hypersegmented neutrophils, erythroblasts with abnormal nuclei, Howell-Jolly body, polychromasia, anisopoikilocytosis, giant platelets, and megakaryocytes with round shape nucle

• bone marrow frequently shows erythroid and/or myeloid maturation arrest

anemia ( J:202604 )

• some mice develop anemia after 12 months of age, with normal or increased white blood cell counts

increased bone marrow cell number ( J:202604 )

• some mice that develop cytopenia show bone marrow with increased cellularity

• bone marrow progenitors from young and old old mice maintain colony formation potential with replating unlike control progenitors

abnormal megakaryocyte morphology ( J:202604 )

• megakaryocytes with round shape nuclei

abnormal erythroblast morphology ( J:202604 )

• erythroblasts with abnormal nuclei

anisopoikilocytosis ( J:202604 )

increased number of Howell-Jolly bodies ( J:202604 )

polychromatophilia ( J:202604 )

abnormal neutrophil morphology ( J:202604 )

• hypersegmented neutrophils

decreased neutrophil cell number ( J:202604 )

• some mice develop neutropenia after 12 months of age

giant platelets ( J:202604 )

increased leukocyte cell number ( J:202604 )

• some mice that develop anemia show increased white blood cell counts

immune system

enlarged spleen ( J:202604 )

• in some mice after 12 months of age

abnormal myelopoiesis ( J:202604 )

• 8 of 19 mice show myeloid dysplasia

• 1 of 19 mice show myeloproliferative disease

• mice with enlarged spleen show increased proliferation of Gr1/Mac-1-positive myeloid cells

• myelodysplasia including Pseudo-Pelger-Huet anomaly, hypersegmented neutrophils, erythroblasts with abnormal nuclei, Howell-Jolly body, polychromasia, anisopoikilocytosis, giant platelets, and megakaryocytes with round shape nucle

• bone marrow frequently shows erythroid and/or myeloid maturation arrest

abnormal neutrophil morphology ( J:202604 )

• hypersegmented neutrophils

decreased neutrophil cell number ( J:202604 )

• some mice develop neutropenia after 12 months of age

increased leukocyte cell number ( J:202604 )

• some mice that develop anemia show increased white blood cell counts

increased susceptibility to Retroviridae infection ( J:202604 )

• 12 of 14 newborns injected with a Moloney murine leukemia virus derivative, MOL4070A, die of nonlymphoid hematopoietic neoplasms much sooner than mice that develop spontaneous myeloid malignancies

mortality/aging

premature death ( J:202604 )

• mice die of myeloid disease

growth/size/body

enlarged spleen ( J:202604 )

• in some mice after 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:202604

Genotype
MGI:5695110

cx4

• Allelic Composition: Abcc6^tm1Jfk/Abcc6^tm1Jfk; Samd9l^tm1Homy/Samd9l^tm1Homy
• Genetic Background: B6.129-Samd9l^tm1Homy Abcc6^tm1Jfk

homeostasis/metabolism

calcinosis ( J:225110 )

• aberrant mineralization is seen in the vibrissae, the kidneys, heart, and the eyes, however mineralization is similar to that seen in single Abcc5^tm1Jfk homozygotes

integument

abnormal vibrissa morphology ( J:225110 )

• muzzle skin following initiation of a diet that accelerates ectopic mineralization shows progressive mineralization of connective tissue sheath of vibrissae and calcium deposits; mineralization levels are similar to that seen in single Abcc5^tm1Jfk homozygotes