Human Disease and Mouse Model Detail

Human Disease

Term: Diarrhea 2, with Microvillus Atrophy; DIAR2
OMIM ID: 251850

Synonyms

Congenital Familial Protracted Diarrhea with Enterocyte Brush-Border Abnormalities; Davidson Disease; Intractable Diarrhea of Infancy; Microvillus Atrophy, Congenital; Microvillus Inclusion Disease; MVID

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...

Cdc42

CDC42

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

Myo5b

MYO5B

...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
Cdc42^tm1Brak/Cdc42^tm1Brak Tg(Vil-cre)997Gum/0	2	involves: C57BL/6J * SJL	J:184563

¹Human genes are associated with this disease. Mouse model genotypes do not include mutations in the orthologs of these human genes.
²Conditionally targeted allele(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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