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Human Disease and Mouse Model Detail
Human Disease

Term: Spherocytosis, Type 3; SPH3
OMIM ID: 270970

Synonyms Spherocytosis, Hereditary, 3; HS3
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...
Spta1 SPTA1
  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
Spta1ihj/Spta1ihj   involves: HRS/J * LAH J:157766
Spta1sph-2Bc/Spta1sph-2Bc   involves: SELH J:7048, J:7501
Spta1sph-ha/Spta1sph-ha   involves: DBA/1J J:14946, J:30699
Spta1sph/Spta1sph   either: (B6.C3-Spta1sph x WB.C3-Spta1sph)F1 or (WB.C3-Spta1sph x B6.C3-Spta1sph)F1 J:6695
Spta1sph/Spta1sph   involves: C3H J:12276

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
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory