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| Nomenclature |
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Symbol:
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Cln6nclf
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Name:
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ceroid-lipofuscinosis, neuronal 6;
neuronal ceroid lipofuscinosis
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MGI ID: |
MGI:2159328 |
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Synonyms: |
nclf |
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Gene:
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Cln6
Location:
Chr9:62838785-62852006 bp, + strand
Genetic Position: Chr9,
33.89 cM
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Mutation
origin |
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Strain of Origin:
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Mixed stock
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Insertion |
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Mutation details: This allele comprises a single nucleotide insertion of a cysteine, located within a run of cysteines in exon four. The insertion produces a frameshift at amino acid 103, followed by a premature stop codon. (J:73921, J:73923)
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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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| References |
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Original: |
J:47292
Bronson RT et al.,
"Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9."
Am J Med Genet 1998 May 26;77(4):289-97
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All: |
10 reference(s)
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Analysis Tools
