Human Disease and Mouse Model Detail

Human Disease

Term: Spherocytosis, Type 1; SPH1
OMIM ID: 182900

Synonyms

Spherocytosis, Hereditary, 1; HS1; Sph; HS

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...

Ank1

ANK1

...both mouse and human orthologous genes.

Add2	ADD2
Epb4.2	EPB42
Spta1	SPTA1

...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
Ank1^M1Wlst/Ank1^M1Wlst		involves: 129S1/SvImJ * C3H/HeJ * C57BL/6	J:170562
Ank1^nb/Ank1^nb		either: (involves: non-inbred stock) or (involves: C57BL/6) or (involves: WB/Re)	J:11441
Ank1^RBC2/Ank1^RBC2		involves: 129S1/Sv * BALB/c	J:148127
Models with phenotypic similarity to human disease where etiologies are distinct.²
Add2^tm1Llp/Add2^tm1Llp		involves: 129S4/SvJae * C57BL/6J	J:71029
Epb4.2^tm1Llp/Epb4.2^tm1Llp		involves: 129P2/OlaHsd * C57BL/6J	J:67412
Spta1^sph-2Bc/Spta1^sph-2Bc		involves: SELH	J:7048, J:7501
Spta1^sph-ha/Spta1^sph-ha		involves: DBA/1J	J:14946, J:30699
Spta1^sph/Spta1^sph		involves: C3H	J:12276

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 Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 04/03/2013 MGI 5.12