severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive Disease Ontology Browser

Disease Ontology Browser

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, Nk cell-positive (DOID:0090014)
Alliance: disease page
Synonyms: autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID; interleukin-7 receptor alpha deficiency; severe combined immunodeficiency 104
Alt IDs: OMIM:608971, ICD10CM:D81.2, MESH:C563822, ORDO:169154
Definition: A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.

Disease References using Mouse Models (3)

Allelic Composition	Genetic Background	Reference	Phenotypes
Coro1aptcd/Coro1aptcd	B6.CTS-Coro1a^ptcd	J:141431	View
Coro1akoy/Coro1akoy	C57BL/6-Coro1a^koy	J:141431	View
Coro1atm1Achn/Coro1atm1Achn	B6.129X1-Coro1a^tm1Achn	J:141431	View
Coro1aptcd/Coro1atm1Achn	B6.Cg-Coro1a^ptcd Coro1a^tm1Achn	J:141431	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Jak3tm1Tks/Jak3tm1Tks	involves: 129P2/OlaHsd * C57BL/6	J:31231	View
Jak3tm1Ljb/Jak3tm1Ljb	involves: 129S4/SvJae	J:64861	View

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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