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Phenotypes Associated with This Genotype
Genotype
MGI:5806080
Allelic
Composition
Nbeal2gps/Nbeal2gps
Genetic
Background
129S1/SvImJ-Nbeal2gps
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nbeal2gps mutation (0 available); any Nbeal2 mutation (98 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• significant neutropenia with homozygotes having only 0.27 x 103 per ul versus 0.77 x 103 in controls
• homozygotes have fewer than normal platelet alpha granules
• although mean platelet volume is normal, platelet counts are approximately one third lower than normal
• increased emperipolesis of neutrophils in both the spleen and bone marrow, with approximately half of the bone marrow megakaryocytes having some degree of emperipolesis

immune system
• significant neutropenia with homozygotes having only 0.27 x 103 per ul versus 0.77 x 103 in controls

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
gray platelet syndrome DOID:0111044 OMIM:139090
J:236370


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
11/05/2024
MGI 6.24
The Jackson Laboratory