Human Disease and Mouse Model Detail

Human Disease

Term: Anemia, Dyserythropoietic Congenital, Type II; CDAN2
OMIM ID: 224100

Synonyms

CDA II; Dyserythropoietic Anemia, Congenital, Type II; Dyserythropoietic Anemia, Hempas Type; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test; HEMPAS

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...

Man2a1

MAN2A1

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Sec23b

SEC23B

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.¹
Man2a1^tm1Jxm/Man2a1^tm1Jxm		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:41621

¹Human 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
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