Phenotypes Associated with This Genotype

Genotype
MGI:5608466

• Allelic Composition: Nbeal2^{tm1a(EUCOMM)Wtsi}/Nbeal2^{tm1a(EUCOMM)Wtsi}
• Genetic Background: C57BL/6N-Nbeal2^{tm1a(EUCOMM)Wtsi}/Wtsi
• Cell Lines: EPD0598_2_C01

Data Sources

IMPC Data for Nbeal2

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

cellular

abnormal megakaryocyte differentiation ( J:220801 )

• megakaryocytes exhibit a maturation defect, but proplatelet formation is maintained, showing fewer large megakaryocytes with multilobated nuclei and an increase in small megakaryocytes with reduced nuclear lobation

• megakaryocyte differentiation and maturation from bone marrow is impaired in in vitro cultures

growth/size/body

enlarged spleen ( J:220801 )

• splenomegaly is seen in mice older than 9 months of age

hematopoietic system

enlarged spleen ( J:220801 )

• splenomegaly is seen in mice older than 9 months of age

abnormal megakaryocyte morphology ( J:220801 )

• megakaryocytes have prominent emperipolesis of neutrophils

• mature alpha-granules are present in megakaryocytes, although their density and opacity are slightly decreased

abnormal megakaryocyte differentiation ( J:220801 )

• megakaryocytes exhibit a maturation defect, but proplatelet formation is maintained, showing fewer large megakaryocytes with multilobated nuclei and an increase in small megakaryocytes with reduced nuclear lobation

• megakaryocyte differentiation and maturation from bone marrow is impaired in in vitro cultures

abnormal platelet morphology ( J:220801 )

• platelets are grayish in appearance

• platelets are larger and rounder in shape with some showing abnormal membrane formations with linear or tubular sheet inclusions

decreased platelet alpha-granule number ( J:220801 )

• platelets lack alpha-granules

• however, alpha-granule formation, packaging or transport to the budding proplatelets is not affected and mature alpha-granules are present in megakaryocytes

thrombocytopenia ( J:220801 , J:211773 )

MGI

• platelet count is reduced by almost 50% (J:220801)

IMPC - WTSI (J:211773)

abnormal platelet shape ( J:220801 )

• platelets are larger and rounder in shape

increased mean platelet volume ( J:220801 , J:211773 )

MGI (J:220801)

IMPC - WTSI (J:211773)

increased leukocyte cell number ( J:211773 )

♂

IMPC - WTSI

immune system

enlarged spleen ( J:220801 )

• splenomegaly is seen in mice older than 9 months of age

increased leukocyte cell number ( J:211773 )

♂

IMPC - WTSI

increased inflammatory response ( J:220801 )

• analysis of gene expression arrays indicates an increase in proinflammatory gene expression in megakaryocytes

neoplasm

decreased metastatic potential ( J:220801 )

• mice show a reduction, by almost 80%, in the number of pulmonary metastases following intravenous injection of murine melanoma B16-F10 cells

skeleton

myelofibrosis ( J:220801 )

• mice develop premature myelofibrosis of the bone marrow with aging

decreased bone mineral content ( J:211773 )

♂

IMPC - WTSI

decreased bone mineral density ( J:211773 )

♂

IMPC - WTSI

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
gray platelet syndrome		DOID:0111044	OMIM:139090	J:220801