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Human Disease and Mouse Model Detail
Human Disease

Term: Shwachman-Diamond Syndrome; SDS
OMIM ID: 260400

Synonyms Lipomatosis of Pancreas, Congenital; Pancreatic Insufficiency and Bone Marrow Dysfunction; Shwachman-Bodian Syndrome
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...
Sbds SBDS
  mousehuman...both mouse and human orthologous genes.
     
Ptf1a PTF1A
Serpini2 SERPINI2
  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
Sbdstm1Jrom/Sbdstm3.1Jrom
Ptf1atm1(cre)Cvw/Ptf1a+
  involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ J:189357
Sbdstm2.1Jrom/Sbdstm3.1Jrom
Ptf1atm1(cre)Cvw/Ptf1a+
  involves: 129S1/Sv * 129X1/SvJ J:189357
Models with phenotypic similarity to human disease where etiologies are distinct.2
Serpini2pq/Serpini2pq   involves: C57BL/6J J:115744
No similarity to the expected human disease phenotype was found.3
NOT Sbdstm1Jrom/Sbdstm1Jrom   involves: 129S6/SvEvTac * C57BL/6J J:112167
NOT Sbdstm1Jrom/Sbds+   involves: 129S6/SvEvTac * C57BL/6J J:112167

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.
3One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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