Cln8^mnd
Spontaneous Allele Detail

Summary

• Symbol: Cln8^mnd
• Name: CLN8 transmembrane ER and ERGIC protein; motor neuron degeneration
• MGI ID: MGI:1856959
• Synonyms: Cln8mnd, mnd
• Gene: Cln8 Location: Chr8:14931335-14951720 bp, + strand Genetic Position: Chr8, 7.59 cM
• Alliance: Cln8^mnd page

Mutation origin

• Strain of Origin: B6.KB2-H2^b5

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Insertion
• A single nucleotide insertion (267-268C, codon 90) predicts a frameshift and a truncated protein. (J:57766)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Cln8 Mutation: 15 strains or lines available

Notes

Early papers (J:8492, J:1224) state that this allele exhibits phenotypic similarity to amytrophic lateral sclerosis (ALS), however further analysis (J:12816, 56219) revealed that it is a better model for neuronal ceroid lipofuscinoses (Batten's disease) than for ALS.

References

• Original: J:8492 Messer A, et al., Autosomal dominance in a late-onset motor neuron disease in the mouse. J Neurogenet. 1986 Nov;3(6):345-55
• All: 53 reference(s)