Human Disease and Mouse Model Detail

Human Disease

Term: Pyloric Stenosis, Infantile Hypertrophic, 1; IHPS1
OMIM ID: 179010

Synonyms

Pyloric Stenosis, Infantile; Pyloric Stenosis, Infantile Hypertrophic; IHPS

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...

hph1	none identified
Nos1	NOS1

...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 diseases where etiology is unknown or involving genes where ortholog is unknown.¹
hph1/hph1			involves: C57BL/6 * CBA/Ca	J:101792
Nos1^tm1Plh/Nos1^tm1Plh			involves: 129S4/SvJae * C57BL/6	J:16390
No similarity to the expected human disease phenotype was found.²
NOT	Nos1^tm1Plh/Nos1^tm1Plh		involves: 129S4/SvJae * C57BL/6J	J:64225

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.
²The mouse gene may involve mutations to orthologs of human genes which may be causal in humans, but the phenotype did not resemble the disease.

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