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Human Disease and Mouse Model Detail
Human Disease

Term: Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes
OMIM ID: 612847

Synonyms Semd, Pakistani Type; Spondylodysplasia and Premature Pubarche; Spondyloepimetaphyseal Dysplasia, Pakistani Type
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...
Papss2 PAPSS2
  mousehuman...both mouse and human orthologous genes.
     

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Papss2bm/Papss2bm   LDJ/Le J:5109

1Human genes are associated with this disease. Mouse model genotypes 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