Human Disease and Mouse Model Detail

Human Disease

Term: Paragangliomas 4; PGL4
OMIM ID: 115310

Synonyms

Carotid Body Tumors and Multiple Extraadrenal Pheochromocytomas; Paraganglioma, Familial Malignant; Paragangliomas, Hereditary Extraadrenal; Pheochromocytoma, Extraadrenal, and Cervical Paraganglioma; Pheochromocytoma, Familial Extraadrenal

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...

Sdhb

SDHB

...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	Ref(s)
No similarity to the expected human disease phenotype was found.¹
NOT	Sdhd^tm1Jlob/Sdhd^tm1Jlob		involves: 129X1/SvJ	J:95252
NOT	Sdhd^tm1Jlob/Sdhd⁺		involves: 129X1/SvJ	J:95252
NOT	Sdhd^tm1Jpb/Sdhd⁺		either: 129P2/OlaHsd-Sdhd^tm1Jpb or (involves: 129P2/OlaHsd * C57BL/6J)	J:155380

¹One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, 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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