Cln5^tm1Pltn
Targeted Allele Detail

Summary

• Symbol: Cln5^tm1Pltn
• Name: ceroid-lipofuscinosis, neuronal 5; targeted mutation 1, Leena Peltonen
• MGI ID: MGI:3521802
• Synonyms: Cln5^-
• Gene: Cln5 Location: Chr14:103307679-103315064 bp, + strand Genetic Position: Chr14, 51.71 cM
• Alliance: Cln5^tm1Pltn page

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 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)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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: 15 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: 13 reference(s)