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| Nomenclature |
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Symbol:
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Cln8mnd
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Name:
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ceroid-lipofuscinosis, neuronal 8;
motor neuron degeneration
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MGI ID: |
MGI:1856959 |
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Synonyms: |
Cln8mnd, mnd |
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Gene:
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Cln8
Location:
Chr8:14881335-14901720 bp, + strand
Genetic Position: Chr8,
7.59 cM
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Mutation
origin |
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Strain of Origin:
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B6.KB2-H2b5
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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A single nucleotide insertion (267-268C, codon 90) predicts a frameshift and a truncated protein. (J:57766)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
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.
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| References |
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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
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All: |
49 reference(s)
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Analysis Tools
