Human Disease and Mouse Model Detail

Human Disease

Term: Huntington Disease-Like 1; HDL1
OMIM ID: 603218

Synonyms

Huntington-Like Neurodegenerative Disorder 1; HLN1; Huntington-Like Neurodegenerative Disorder, Autosomal Dominant; Prion Disease, Early-Onset, with Prominent Psychiatric Features

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...

Prnp

PRNP

...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	Ref(s)
No similarity to the expected human disease phenotype was found.¹
NOT	Prnp^tm1Edin/Prnp^tm1Edin		129P2/OlaHsd-Prnp^tm1Edin	J:58820
NOT	Prnp^tm1Rcm/Prnp^tm1Rcm		129P2/OlaHsd-Prnp^tm1Rcm	J:45908

¹One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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