Human Disease and Mouse Model Detail

Human Disease

Term: Hirschsprung Disease, Susceptibility to, 1; HSCR1
OMIM ID: 142623

Synonyms

Aganglionic Megacolon; Hirschsprung Disease; HSCR; Megacolon, Aganglionic; MGC

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...

Ret

RET

...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
Ret^tm1Cos/Ret^tm1Cos		involves: 129S/Sv * C57BL/6	J:135153
Ret^tm1Cos/Ret^tm2(RET)Jmi		involves: 129S/Sv * C57BL/6	J:135153
Ret^tm1Cos/Ret^tm1Cos		involves: 129S/SvEv * MF1	J:23852, J:30389
Ret^tm2.1Heno/Ret^tm2.1Heno		involves: 129S/Sv * C57BL/6 * FVB/N	J:135153

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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