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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nbeal2tm1a(EUCOMM)Wtsi
targeted mutation 1a, Wellcome Trust Sanger Institute
MGI:4461705
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi MGI:5608466


Genotype
MGI:5608466
hm1
Allelic
Composition
Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi
Genetic
Background
C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi
Cell Lines EPD0598_2_C01
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbeal2tm1a(EUCOMM)Wtsi mutation (1 available); any Nbeal2 mutation (60 available)
Data Sources
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• 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
• splenomegaly is seen in mice older than 9 months of age

hematopoietic system
• splenomegaly is seen in mice older than 9 months of age
• megakaryocytes have prominent emperipolesis of neutrophils
• mature alpha-granules are present in megakaryocytes, although their density and opacity are slightly decreased
• 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
• platelets are grayish in appearance
• platelets are larger and rounder in shape with some showing abnormal membrane formations with linear or tubular sheet inclusions
• 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
IMPC - WTSI (J:211773)
MGI
• platelet count is reduced by almost 50% (J:220801)
• platelets are larger and rounder in shape
IMPC - WTSI (J:211773)
MGI (J:220801)

homeostasis/metabolism

immune system
• splenomegaly is seen in mice older than 9 months of age
• analysis of gene expression arrays indicates an increase in proinflammatory gene expression in megakaryocytes

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

skeleton
• mice develop premature myelofibrosis of the bone marrow with aging

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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/30/2021
MGI 6.16
The Jackson Laboratory