Human Disease and Mouse Model Detail

Human Disease

Term: Neuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive
OMIM ID: 256840

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...

Pnpla6

PNPLA6

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

Cct5

CCT5

...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 are distinct.¹
Pnpla6^tm1Mvc/Pnpla6^tm1Mvc Tg(Nes-cre)1Kln/0	2	involves: C57BL/6 * SJL	J:152759

¹Human genes are associated with this disease. Mouse model genotypes do not 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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