Human Disease and Mouse Model Detail

Human Disease

Term: Central Hypoventilation Syndrome, Congenital; CCHS
OMIM ID: 209880

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...

Phox2b

PHOX2B

...both mouse and human orthologous genes.

Tlx3

TLX3

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

Ascl1	ASCL1
Bdnf	BDNF
Edn3	EDN3
Gdnf	GDNF
Ret	RET

...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 involve orthologs.¹
Phox2b^tm2Jbr/Phox2b⁺		involves: 129S2/SvPas * C57BL/6	J:131365
Models with phenotypic similarity to human disease where etiologies are distinct.²
Tlx3^tm1Sjk/Tlx3^tm1Sjk		involves: 129X1/SvJ	J:60751

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human 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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