Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Cln3tm1.1Mem
Name:	CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1.1, Marcy MacDonald
MGI ID:	MGI:2388888
Synonyms:	Cln3deltaex7/8
Gene:	Cln3  Location: Chr7:126170571-126184991 bp, - strand  Genetic Position: Chr7, 69.16 cM
Alliance:	Cln3tm1.1Mem page

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 details: A 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).

In Mice Carrying this Mutation:	7 assay results
In Structures Affected by this Mutation:	8 anatomical structure(s)

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:	38 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:	27 reference(s)