Mouse Genome Informatics
hm1
    Arid4btm1Alb/Arid4btm1Alb
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• few embryos are recovered at E3.5 and none at E7.5


Mouse Genome Informatics
ht2
    Arid4btm1Alb/Arid4b+
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cellular
• DNA methylation is normal


Mouse Genome Informatics
cx3
    Arid4atm1Alb/Arid4atm1Alb
Arid4btm1Alb/Arid4b+

involves: 129S7/SvEvBrd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• 25% of mice die before 1 month
• mice exhibit increased mortality at 7 months of age

hematopoietic system
• increased in the spleen and bone marrow
• the bone marrow of mice with acute myeloid leukemia (AML)
• the spleen of mice of mice with acute myeloid leukemia (AML)
• in the peripheral blood of mice with acute myeloid leukemia (AML)
• the bone marrow and spleens of mice with acute myeloid leukemia (AML)
• the spleen of mice with acute myeloid leukemia (AML)
• the bone marrow spleens of mice with acute myeloid leukemia (AML)
• in mice with acute myeloid leukemia (AML)
• the bone marrow of mice with acute myeloid leukemia (AML)
• mice with acute myeloid leukemia (AML) exhibit monocytosis and hemophagocytosis
• in the peripheral blood of mice with acute myeloid leukemia (AML)
• mice that exhibit acute myeloid leukemia also present with bone marrow containing a mixture of immature and dysplastic white blood cell precursors with more than 20% non-lymphoid immature forms and blasts unlike in wild-type mice
• the peripheral blood of mice with acute myeloid leukemia (AML) contains more than 20% atypical cells with morphology consistent with blasts and immature myeloid precursors unlike in wild-type mice
• hematopoietic stem cell populations are expanded in the bone marrow and spleen compared to in wild-type mice and Arid4atm1Alb homozygotes
• in mice with acute myeloid leukemia (AML)

tumorigenesis
• 83% of mice develop acute myeloid leukemia between 7 and 15 months of age
• mice with acute myeloid leukemia (AML) also develop myeloid sarcomas in spleens and livers

liver/biliary system
• in mice with acute myeloid leukemia (AML)

skeleton
• mice that exhibit acute myeloid leukemia (AML) also present with bone marrow containing a mixture of immature and dysplastic white blood cell precursors with more than 20% non-lymphoid immature forms and blasts unlike in wild-type mice
• the bone marrow of mice with AML increase in granulocytes, monocytes, T lymphoid cells, and erythroid cells and a decrease in B lymphoid cells compared to in wild-type mice
• hematopoietic stem cell populations are expanded in the bone marrow compared to in wild-type mice and Arid4atm1Alb homozygotes

respiratory system
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in lung blood vessels indicative of leukemic involvement

cardiovascular system
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in lung, kidney and lymph node blood vessels indicative of leukemic involvement
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in kidney blood vessels indicative of leukemic involvement
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in lung blood vessels indicative of leukemic involvement

renal/urinary system
• mice with acute myeloid leukemia (AML) exhibit nucleated elements in kidney blood vessels indicative of leukemic involvement

growth/size
• at 7 weeks of age, mice weigh 30% less than wild-type mice

immune system
• in the peripheral blood of mice with acute myeloid leukemia (AML)
• the bone marrow and spleens of mice with acute myeloid leukemia (AML)
• the spleen of mice with acute myeloid leukemia (AML)
• the bone marrow spleens of mice with acute myeloid leukemia (AML)
• in mice with acute myeloid leukemia (AML)
• the bone marrow of mice with acute myeloid leukemia (AML)
• mice with acute myeloid leukemia (AML) exhibit monocytosis and hemophagocytosis
• mice that exhibit acute myeloid leukemia also present with bone marrow containing a mixture of immature and dysplastic white blood cell precursors with more than 20% non-lymphoid immature forms and blasts unlike in wild-type mice
• in mice with acute myeloid leukemia (AML)

Mouse Models of Human Disease
OMIM IDRef(s)
Leukemia, Acute Myeloid; AML 601626 J:141004


Mouse Genome Informatics
cx4
    Arid4atm1Alb/Arid4atm1Alb
Arid4btm1Alb/Arid4btm1Alb

involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• mice are not viable


Mouse Genome Informatics
cx5
    Arid4atm1Alb/Arid4atm1Alb
Arid4btm1Alb/Arid4b+

involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cellular
• 1 of 7 mice lacks correct DNA methylation patterns
• trimethylation at H4K20 is lost in all mice
• maternal imprinting is defective

reproductive system


Mouse Genome Informatics
cx6
    Arid4btm1Alb/Arid4b+
Snrpntm4Alb/Snrpn+

involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
cellular
• 14 of 18 mice lack correct DNA methylation patterns