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Human Disease and Mouse Model Detail
Human Disease

Term: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency
OMIM ID: 102700

Synonyms ADA-SCID; SCID Due to ADA Deficiency
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...
Ada ADA
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(PLADA)4118Rkmb   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Adatm1Mw/Adatm1Mw
Tg(PLADA)4118Rkmb/0
  involves: 129S7/SvEvBrd * C57BL/6 J:73418
Models involving transgenes or other mutation types.2
Adatm1Mw/Adatm1Mw
Tg(PLADA)4118Rkmb/0
  involves: 129S7/SvEvBrd * C57BL/6 J:73418

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory