Human Disease and Mouse Model Detail

Human Disease

Term: Insensitivity to Pain, Congenital, with Anhidrosis; CIPA
OMIM ID: 256800

Synonyms

Familial Dysautonomia, Type II; Hereditary Sensory and Autonomic Neuropathy IV; HSAN4; HSAN IV; Neuropathy, Congenital Sensory, with Anhidrosis

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...

Ntrk1

NTRK1

...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
Ntrk1^tm1Bbd/Ntrk1^tm1Bbd		involves: 129S2/SvPas	J:17194
Ntrk1^tm1Par/Ntrk1^tm1Par		involves: 129S1/Sv * C57BL/6	J:60927

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

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