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Targeted Allele Detail
Symbol: Cln3tm1.1Mem
Name: ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease); targeted mutation 1.1, Marcy MacDonald
MGI ID: MGI:2388888
Synonyms: Cln3deltaex7/8
Gene: Cln3  Location: Chr7:126571207-126585817 bp, - strand  Genetic Position: Chr7, 69.16 cM
Germline Transmission:  Earliest citation of germline transmission: J:79615
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA floxed neo cassette that had replaced exons 7 and 8 was excised from Cln3tm1Mem via in vivo cre mediated recombination in the germline. Expression analyses showed the presence of various aberrantly splice transcripts. Translation of a cDNA derived from RT-PCR analysis produced a protein containing the amino and carboxyl terminals as well as a novel mid-section. BLASTN revealed homology with a protein isolated from a patient with the juvenile-onset form of neuronal ceroid lipofuscinosis (JNCL). (J:79615)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Cln3 Mutation:  22 strains or lines available
Original:  J:79615 Cotman SL, et al., Cln3( Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. 2002 Nov 1;11(22):2709-21
All:  13 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
The Jackson Laboratory