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Spontaneous Allele Detail
Symbol: Cln8mnd
Name: ceroid-lipofuscinosis, neuronal 8; motor neuron degeneration
MGI ID: MGI:1856959
Synonyms: Cln8mnd, mnd
Gene: Cln8  Location: Chr8:14881335-14901720 bp, + strand  Genetic Position: Chr8, 7.59 cM
Strain of Origin:  B6.KB2-H2b5
Allele Type:    Spontaneous
Mutation:    Insertion
    A single nucleotide insertion (267-268C, codon 90) predicts a frameshift and a truncated protein. (J:57766)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
Disease models
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:  6 strains or lines available

It was originally thought that heterozygotes (mnd/+) could be detected at very old ages. However, it has been impossible to repeat these results and, even in 18-month old heterozygotes, no histological pathology is detectable (A. Messer and R. Bronson, personal communication, 1993).

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.

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:  50 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory