Human Disease and Mouse Model Detail

Human Disease

Term: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
OMIM ID: 608971

Synonyms

SCID, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Positive

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Coro1a	CORO1A
Jak3	JAK3

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Coro1a^koy/Coro1a^koy		C57BL/6-Coro1a^koy	J:141431
Coro1a^ptcd/Coro1a^tm1Achn		B6.Cg-Coro1a^ptcd Coro1a^tm1Achn	J:141431
Coro1a^ptcd/Coro1a^ptcd		B6.CTS-Coro1a^ptcd	J:141431
Coro1a^tm1Achn/Coro1a^tm1Achn		B6.129X1-Coro1a^tm1Achn	J:141431
Jak3^tm1Ljb/Jak3^tm1Ljb		involves: 129S4/SvJae	J:64861
Jak3^tm1Tks/Jak3^tm1Tks		involves: 129P2/OlaHsd * C57BL/6	J:31231

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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