Human Disease and Mouse Model Detail

Human Disease

Term: Neuropathy, Hereditary Sensory and Autonomic, Type IA; HSAN1A
OMIM ID: 162400

Synonyms

Hsan IA; Hsn IA; Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a; Neuropathy, Hereditary Sensory, Type IA; HSN1A

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...

SPTLC1

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Transgenes and
other mutation types

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models involving transgenes or other mutation types.¹
Tg(CAG-SPTLC1*C133W)8EAmcc/0		involves: C3H * C57BL/6	J:106812

¹Models involving transgenes or other mutation types may also appear in other sections of the table.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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