Human Disease and Mouse Model Detail

Human Disease

Term: Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN
OMIM ID: 218000

Synonyms

Andermann Syndrome; Charlevoix Disease; Corpus Callosum, Agenesis of, with Neuronopathy; Polyneuropathy, Sensorimotor, with or without Agenesis of the Corpus Callosum

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...

Slc12a6

SLC12A6

...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
Slc12a6^tm1Dlp/Slc12a6^tm1Dlp		involves: 129 * C57BL/6J	J:79870
Slc12a6^tm1Garo/Slc12a6^tm1Garo Tg(Syn1-cre)671Jxm/0	2	involves: 129 * C57BL/6 * CBA	J:183239
Slc12a6^tm1Tjj/Slc12a6^tm1Tjj		involves: 129/Sv * C57BL/6	J:86183

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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