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Galctwi
Spontaneous Allele Detail
Nomenclature
Symbol: Galctwi
Name: galactosylceramidase; twitcher
MGI ID: MGI:1856218
Synonyms: galc-, twi
Gene: Galc  Location: Chr12:98202294-98259459 bp, - strand  Genetic Position: Chr12, 49.83 cM
Mutation
origin
Strain of Origin:  CE/J
Mutation
description
Allele Type:    Spontaneous (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsSequence analysis comparisons of cDNA from livers of mice homozygous for this allele and +/+ mice showed a G to A transition at codon 355, changing it from tryptophan to a stop codon (p.W355*). Northern analysis showed absence of the most abundant mRNA of mouse galactocerebrosidase in mice homozygous for this allele. (J:31433)
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: 24 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Galc Mutation:  6 strains or lines available
References
Original:  J:13867 Duchen LW, A new neurological mutant "twitcher" (twi). Mouse News Lett. 1979;61:47
All:  90 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
04/13/2021
MGI 6.16
The Jackson Laboratory