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Cln5tm1Pltn
Targeted Allele Detail
Nomenclature
Symbol: Cln5tm1Pltn
Name: ceroid-lipofuscinosis, neuronal 5; targeted mutation 1, Leena Peltonen
MGI ID: MGI:3521802
Synonyms: Cln5-
Gene: Cln5  Location: Chr14:103070216-103077628 bp, + strand  Genetic Position: Chr14, 51.71 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:94383
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cln5 Mutation:  7 strains or lines available
References
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
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/12/2018
MGI 6.12
The Jackson Laboratory