Human Disease and Mouse Model Detail

Human Disease

Term: Ceroid Lipofuscinosis, Neuronal, 3; CLN3
OMIM ID: 204200

Synonyms

Batten Disease; Neuronal Ceroid Lipofuscinosis, Juvenile; JNCL; Spielmeyer-Sjogren Disease; Vogt-Spielmeyer Disease

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...

Cln3

CLN3

...both mouse and human orthologous genes.

Clcn3	CLCN3
Clcn6	CLCN6
Gfap	GFAP
Ppt1	PPT1
Vim	VIM

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

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Cln3^tm1.1Mem/Cln3^tm1.1Mem		involves: 129S/SvEv * CD-1	J:79615
Cln3^tm1Blda/Cln3^tm1Blda		B6.129-Cln3^tm1Blda	J:125194
Cln3^tm1Mkat/Cln3^tm1Mkat		involves: 129X1/SvJ * C57BL/6J	J:57155
Cln3^tm1Nbm/Cln3^tm1Nbm		129S6/SvEvTac-Cln3^tm1Nbm	J:109790
Cln3^tm1Nbm/Cln3^tm1Nbm		involves: 129S6/SvEvTac * NIH Black Swiss	J:58230
Models with phenotypic similarity to human disease where etiologies are distinct.²
Clcn3^tm1Suc/Clcn3^tm1Suc		involves: 129P2/OlaHsd * C57BL/6	J:96311
Clcn6^tm1Tjj/Clcn6^tm1Tjj		involves: 129S1/Sv * 129X1/SvJ	J:113752
Gfap^tm1Pkny/Gfap^tm1Pkny Ppt1^tm1Hof/Ppt1^tm1Hof Vim^tm1Cba/Vim^tm1Cba		involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6	J:177265
Ppt1^tm1Hof/Ppt1^tm1Hof		involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6	J:177265
Ppt1^tm1Hof/Ppt1^tm1Hof		involves: 129S6/SvEvTac * C57BL/6J	J:72931

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Human genes are associated with this disease. Mouse model genotypes do not 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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