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| Nomenclature |
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Symbol:
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Galctwi
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Name:
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galactosylceramidase;
twitcher
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MGI ID: |
MGI:1856218 |
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Synonyms: |
galc-, twi |
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Gene:
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Galc
Location:
Chr12:98202300-98259337 bp, - strand
Genetic Position: Chr12,
49.83 cM
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Mutation origin |
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Mutation description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: Sequence analysis comparisons of cDNA from livers of mice homozygous for this allele and +/+ mice showed a G to A transition at codon 339. Northern analysis showed absence of the most abundant mRNA of mouse galactocerebrosidase in mice homozygous for this allele. (J:31433)
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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:13867
Duchen LW,
"A new neurological mutant "twitcher" (twi)"
Mouse News Lett 1979;61():47
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All: |
65 reference(s)
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