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| Nomenclature |
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Symbol:
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Cln3tm1.1Mem
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Name:
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ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease);
targeted mutation 1.1, Marcy MacDonald
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MGI ID: |
MGI:2388888 |
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Synonyms: |
Cln3deltaex7/8 |
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Gene:
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Cln3
Location:
Chr7:126571207-126585817 bp, - strand
Genetic Position: Chr7,
69.16 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:79615
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
7 reference(s)
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Analysis Tools
