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Human Disease and Mouse Model Detail
Human Disease

Term: Agammaglobulinemia, X-Linked; XLA
OMIM ID: 300755

Synonyms Agammaglobulinemia, X-Linked, Type 1; AGMX1; Bruton-Type Agammaglobulinemia
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...
Btk BTK
  mousehuman...both mouse and human orthologous genes.
     
Blnk BLNK
Pik3r1 PIK3R1
Tec TEC
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Blnktm1Pjln/Blnktm1Pjln
Btktm1Wk/Btktm1Wk		   involves: 129S4/SvJae * BALB/c * C57BL/6 J:70406
Btktm1Gsv/Y   involves: 129P2/OlaHsd * C57BL/6 J:35769
Btktm1Wk/Btktm1Wk   involves: 129S4/SvJae * C57BL/6 J:28968
Btktm1Wk/Btktm1Wk
Tectm1Welm/Tectm1Welm		   involves: 129P2/OlaHsd * C57BL/6 J:66080
Btkxid/Btkxid   CBA/HN-Btkxid J:81429
Btkxid/Y   involves: CBA/HN * DBA/2N J:81429
Btkxid/Btkxid   involves: CBA/HN * DBA/2N J:81429
Btkxid/Y   CBA/HN-Btkxid J:81429
Models with phenotypic similarity to human disease where etiologies are distinct.2
Pik3r1tm1Dfr/Pik3r1tm1Dfr   involves: 129S6/SvEvTac * C57BL/6 J:52229, J:65523
Pik3r1tm1Tka/Pik3r1tm1Tka   involves: C57BL/6 * CBA J:52228

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Human 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
Citing These Resources
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory