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Human Disease and Mouse Model Detail
Human Disease

Term: Ceroid Lipofuscinosis, Neuronal, 2; CLN2
OMIM ID: 204500

Synonyms Ceroid Lipofuscinosis, Neuronal, 2, Variable Age at Onset
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...
Tpp1 TPP1
  mousehuman...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
Tpp1tm1Plob/Tpp1tm1Plob   B6.129S1-Tpp1tm1Plob J:136105
Tpp1tm1Plob/Tpp1tm1.1Plob   B6.129S1-Tpp1tm1Plob/Tpp1tm1.1Plob J:136105
Tpp1tm1Plob/Tpp1tm1Plob   involves: 129S1/Sv * C57BL/6 J:94884

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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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory