Phenotypes Associated with This Genotype

Genotype
MGI:5558108

• Allelic Composition: Tg(CMV-SALL4_iB)#Chai/?
• Genetic Background: Not Specified

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

behavior/neurological

abnormal gait ( J:115037 )

• 20% of mice show abnormal gait 3 weeks after birth

hematopoietic system

abnormal myelopoiesis ( J:115037 )

• mice exhibit myelodysplastic syndrome-like features at 6 to 8 months of age

myeloid hyperplasia ( J:115037 )

• increase in CFU-GM (myeloid) colony populations

anemia ( J:115037 )

• mild anemia is seen by 2-6 months of age

increased bone marrow cell number ( J:115037 )

• bone marrow shows increased cellularity at 2-6 months of age

• bone marrow show an increased myeloid population at 2-6 months of age

• increase in immature cell population on bone marrow

abnormal megakaryocyte morphology ( J:115037 )

• megakaryocyte dysplastic features such as hypolobulated megakaryoctyes

increased erythroid progenitor cell number ( J:115037 )

• increase in BFU-E colony populations

abnormal erythrocyte morphology ( J:115037 )

• erythroid dysplastic features such as binucleate erythroid precursors

increased nucleated erythrocyte cell number ( J:115037 )

• presence of nucleated red blood cells

giant platelets ( J:115037 )

abnormal leukocyte morphology ( J:115037 )

• many atypical and dysplastic white cells, including hypersegmented neutrophils and pseudo-Pelger-Huet-like cells

abnormal neutrophil morphology ( J:115037 )

• hypersegmented neutrophils

decreased neutrophil cell number ( J:115037 )

• neutropenia is seen by 2-6 months of age

decreased leukocyte cell number ( J:115037 )

• leukopenia is seen by 2-6 months of age

neoplasm

increased leukemia incidence ( J:115037 )

• 50% of mice progress to acute myeloid leukemia

• leukemic infiltration is seen in many organs, including lungs, kidneys, liver, spleen, and lymph nodes

• leukemia blast cells are CD34+ and are of myeloid in origin

immune system

abnormal myelopoiesis ( J:115037 )

• mice exhibit myelodysplastic syndrome-like features at 6 to 8 months of age

myeloid hyperplasia ( J:115037 )

• increase in CFU-GM (myeloid) colony populations

abnormal leukocyte morphology ( J:115037 )

• many atypical and dysplastic white cells, including hypersegmented neutrophils and pseudo-Pelger-Huet-like cells

abnormal neutrophil morphology ( J:115037 )

• hypersegmented neutrophils

decreased neutrophil cell number ( J:115037 )

• neutropenia is seen by 2-6 months of age

decreased leukocyte cell number ( J:115037 )

• leukopenia is seen by 2-6 months of age

nervous system

hydrocephaly ( J:115037 )

• 20% of mice show hydrocephalus 3 weeks after birth that is associated with abnormal gait

renal/urinary system

polycystic kidney ( J:115037 )

• 60% of mice exhibit polycystic kidneys

cellular

binucleate ( J:115037 )

• binucleate erythroid precursors

increased apoptosis ( J:115037 )

• an increase in apoptosis is seen in primary bone marrow and colony-formation assays

growth/size/body

polycystic kidney ( J:115037 )

• 60% of mice exhibit polycystic kidneys

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute myeloid leukemia		DOID:9119	OMIM:601626	J:115037
myelodysplastic syndrome		DOID:0050908	OMIM:614286	J:115037