Cln8<mnd> Spontaneous Allele Detail MGI Mouse (MGI:1856959)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

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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