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Cln8mnd
Spontaneous Allele Detail
Nomenclature
Symbol: Cln8mnd
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
Mutation
origin
Strain of Origin:  B6.KB2-H2b5
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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 12 anatomical structures
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:  13 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/03/2022
MGI 6.21
The Jackson Laboratory