Human Disease and Mouse Model Detail

Human Disease

Term: Mast Cell Disease
OMIM ID: 154800

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...

KIT

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

Transgenes and
other mutation types

Tg(Kit*D814V)1Roer		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Kit*D814V)2Roer
Tg(Kit*D814V)3Roer

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models involving transgenes or other mutation types.¹
Tg(Cma1-cre)ARoer/0 Tg(Kit*D814V)3Roer/0	2	involves: C57BL/6	J:169611
Tg(Cma1-cre)ARoer/0 Tg(Kit*D814V)1Roer/0	2	involves: C57BL/6	J:169611
Tg(Kit*D814V)1Roer/0 Tg(Mx1-cre)1Cgn/0	2	involves: C57BL/6 * CBA	J:169611
Tg(Kit*D814V)2Roer/0 Tg(Mx1-cre)1Cgn/0	2	involves: C57BL/6 * CBA	J:169611
Tg(Kit*D814V)3Roer/0 Tg(Mx1-cre)1Cgn/0	2	involves: C57BL/6 * CBA	J:169611

¹Models involving transgenes or other mutation types may also appear in other sections of the table.
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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