Cln6^nclf
Spontaneous Allele Detail

Summary

• Symbol: Cln6^nclf
• Name: ceroid-lipofuscinosis, neuronal 6; neuronal ceroid lipofuscinosis
• MGI ID: MGI:2159328
• Synonyms: nclf
• Gene: Cln6 Location: Chr9:62746067-62759288 bp, + strand Genetic Position: Chr9, 33.89 cM
• Alliance: Cln6^nclf page

Mutation origin

• Strain of Origin: Mixed stock

Mutation description

• Allele Type: Spontaneous
• Mutation: Insertion
• Mutation details: This allele comprises a single nucleotide insertion of a cysteine, located within a run of cysteines in exon four. The insertion produces a frameshift at amino acid 103, followed by a premature stop codon. (J:73921, J:73923)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Cln6 Mutation: 35 strains or lines available

References

• Original: J:47292 Bronson RT, et al., Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9. Am J Med Genet. 1998 May 26;77(4):289-97
• All: 22 reference(s)