Human Disease and Mouse Model Detail

Human Disease

Term: Carney Complex, Type 1; CNC1
OMIM ID: 160980

Synonyms

Carney Myxoma-Endocrine Complex; Carney Syndrome; CAR; Lamb Syndrome; Myxoma, Spotty Pigmentation, and Endocrine Overactivity; Name Syndrome

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...

Prkar1a

PRKAR1A

...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
Prkar1a^tm1.1Lsk/Prkar1a⁺		involves: 129S1/Sv * 129X1/SvJ	J:98799
Prkar1a^tm1.1Lsk/Prkar1a⁺		involves: 129S1/Sv * 129X1/SvJ * C57BL/6	J:160299
Prkar1a^tm1.2Lsk/Prkar1a^tm1.2Lsk Tg(Tyr-cre)3Gfk/0	2	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)	J:98799
Prkar1a^tm1Gsm/Prkar1a⁺		involves: 129X1/SvJ	J:93393

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