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| Nomenclature |
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Symbol:
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Cln5tm1Pltn
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Name:
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ceroid-lipofuscinosis, neuronal 5;
targeted mutation 1, Leena Peltonen
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MGI ID: |
MGI:3521802 |
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Synonyms: |
Cln5- |
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Gene:
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Cln5
Location:
Chr14:103070216-103077579 bp, + strand
Genetic Position: Chr14,
51.71 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:94383
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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Mutation details: The insertion of a neo into exon 3 resulted in a truncated transcript. The insertion of the neo caused a frame shift and a premature stop codon in exon 4. (J:94383)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Cln5 Mutation:
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1 strain or line available |
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| References |
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Original: |
J:94383
Kopra O et al.,
"A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging."
Hum Mol Genet 2004 Dec 1;13(23):2893-906
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All: |
5 reference(s)
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Analysis Tools
