Cln3^tm1.1Mem
Targeted Allele Detail

Summary

• Symbol: Cln3^tm1.1Mem
• Name: CLN3 lysosomal/endosomal transmembrane protein, battenin; targeted mutation 1.1, Marcy MacDonald
• MGI ID: MGI:2388888
• Synonyms: Cln3^deltaex7/8
• Gene: Cln3 Location: Chr7:126170571-126184991 bp, - strand Genetic Position: Chr7, 69.16 cM
• Alliance: Cln3^tm1.1Mem page

Mutation origin

• 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⁺

Mutation description

• 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 Cln3^tm1Mem 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)

Disease models

Expression

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

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: 38 strains or lines available

References

• 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: 28 reference(s)