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Symbol
Name
ID
Diaph1
diaphanous related formin 1
MGI:1194490
Phenotype annotations related to hematopoietic system
Darker colors indicate more annotations
Human Phenotypes
Menorrhagia
Post-partum hemorrhage
Impaired platelet aggregation
Thrombocytopenia
Macrothrombocytopenia
Disease(s) Associated with DIAPH1
autosomal dominant nonsyndromic deafness 1

Mouse Phenotypes
abnormal leukocyte migration
decreased T cell proliferation
increased spleen weight
abnormal definitive hematopoiesis
extramedullary hematopoiesis
anemia
abnormal bone marrow cell morphology/development
increased bone marrow cell number
echinocytosis
increased neutrophil cell number
increased granulocyte number
decreased B-1 B cell number
abnormal CD4-positive, alpha-beta T cell number
decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number
increased central memory CD4-positive, alpha-beta T cell number
increased effector memory CD4-positive, alpha-beta T cell number
decreased CD4-positive, alpha-beta T cell number
abnormal CD8-positive, alpha-beta T cell number
increased central memory CD8 positive, alpha-beta T cell number
decreased effector memory CD8-positive, alpha-beta T cell number
increased effector memory CD8-positive, alpha-beta T cell number
decreased CD8-positive, alpha-beta memory T cell number
increased CD8-positive, alpha-beta memory T cell number
decreased CD8-positive, naive alpha-beta T cell number
decreased CD8-positive, alpha-beta T cell number
decreased T cell number
increased single-positive T cell number
decreased lymphocyte cell number
increased monocyte cell number
increased leukocyte cell number
abnormal spleen morphology
abnormal spleen germinal center morphology
absent spleen white pulp
decreased IgE level
Availability Mouse Genotype
Diaph1M1Btlr/Diaph1M1Btlr
Diaph1M2Btlr/Diaph1M2Btlr
Diaph1m3Btlr/Diaph1m3Btlr
Diaph1tm1.1Sna/Diaph1tm1.1Sna
Diaph1tm1Asal/Diaph1tm1Asal
Diaph1M1Btlr/Diaph1+
Diaph1M2Btlr/Diaph1+
Diaph1tm1Asal/Diaph1+

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
04/23/2024
MGI 6.23
The Jackson Laboratory