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Symbol
Name
ID
Ccbe1
collagen and calcium binding EGF domains 1
MGI:2445053
Phenotype annotations related to immune system
Darker colors indicate more annotations
Human Phenotypes
Decreased circulating antibody level
Lymphopenia
Pericardial lymphangiectasia
Intestinal lymphangiectasia
Pleural lymphangiectasia
Pulmonary lymphangiectasia
Thyroid lymphangiectasia
Lymphadenopathy
Splenomegaly
Lymphangioma
Erysipelas
Recurrent respiratory infections
Disease(s) Associated with CCBE1
Hennekam syndrome

Mouse Phenotypes
decreased macrophage cell number
abnormal macrophage physiology
abnormal lymphangiogenesis
absent lymphatic vessels
Availability Mouse Genotype
Ccbe1tm1Lex/Ccbe1tm1Lex
Ccbe1tm1Mlkn/Ccbe1tm1Mlkn

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
04/30/2024
MGI 6.23
The Jackson Laboratory