Phenotypes Associated with This Genotype

Genotype
MGI:3526657

• Allelic Composition: Ctsg^{tm2.1(PML/RARA)Ley}/Ctsg⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

neoplasm

increased leukemia incidence ( J:84230 , J:86458 )

• heterozygotes develop an abrupt onset, rapidly fatal acute leukemia with a median age of overt onset of 10 months and penetrance of over 90% (J:84230)

• heterozygotes develop acute promyelocytic leukemia with a 150-200 day latency and full penetrance by 350 days of age (J:86458)

hematopoietic system

enlarged spleen ( J:84230 )

• progressive splenomegaly is seen prior to the onset of leukemia

abnormal myelopoiesis ( J:84230 , J:86458 )

• increased numbers of myeloblasts and promyelocytes are seen in mutants with leukemia (J:84230)

• splenic myeloid expansion and aberrant CD34 Gr-1 double positive cells are seen in all mutants (J:86458)

extramedullary hematopoiesis ( J:84230 )

• extramedullary hematopoiesis is seen prior to the onset of leukemia

anemia ( J:84230 )

• seen in mutants with leukemia

thrombocytopenia ( J:84230 )

• seen in mutants with leukemia

increased leukocyte cell number ( J:84230 )

• pronounced leukocytosis is seen in mutants with leukemia

immune system

enlarged spleen ( J:84230 )

• progressive splenomegaly is seen prior to the onset of leukemia

abnormal myelopoiesis ( J:84230 , J:86458 )

• increased numbers of myeloblasts and promyelocytes are seen in mutants with leukemia (J:84230)

• splenic myeloid expansion and aberrant CD34 Gr-1 double positive cells are seen in all mutants (J:86458)

increased leukocyte cell number ( J:84230 )

• pronounced leukocytosis is seen in mutants with leukemia

liver/biliary system

enlarged liver ( J:84230 )

• hepatomegaly with leukemic cell infiltrates is seen in mutants with leukemia

growth/size/body

enlarged liver ( J:84230 )

• hepatomegaly with leukemic cell infiltrates is seen in mutants with leukemia

enlarged spleen ( J:84230 )

• progressive splenomegaly is seen prior to the onset of leukemia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute myeloid leukemia		DOID:9119	OMIM:601626	J:84230 , J:86458