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Galctwi-5J
Spontaneous Allele Detail
Nomenclature
Symbol: Galctwi-5J
Name: galactosylceramidase; twitcher 5 Jackson
MGI ID: MGI:3800471
Gene: Galc  Location: Chr12:98202294-98259459 bp, - strand  Genetic Position: Chr12, 49.83 cM
Mutation
origin
Strain of Origin:  BXD32/TyJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA spontaneous a G-to-A substitution in exon 4 results in the amino acid substitution of glutamic acid with lysine at position 130 (p.E130K). This mutation results in a loss of enzymatic activity. (J:199132)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 3 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:139715 Karst SY, et al., Twitcher 5 Jackson; a new remutation in the Galc gene. MGI Direct Data Submission. 2008;
All:  3 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
04/06/2021
MGI 6.16
The Jackson Laboratory