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Galctm1Wngr
Targeted Allele Detail
Nomenclature
Symbol: Galctm1Wngr
Name: galactosylceramidase; targeted mutation 1, David A Wenger
MGI ID: MGI:2385783
Gene: Galc  Location: Chr12:98202304-98259459 bp, - strand  Genetic Position: Chr12, 49.83 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:78691
Parent Cell Line:  D3 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted
Mutation:    Single point mutation
 
Mutation detailsA construct, containing a neo cassette in intron 4 and a missense mutation introduced into exon 5 via site directed mutagenesis of nucleotides 502 and 503, was incorporated at the endogenous locus via homologous recombination. The resultant histidine to cysteine substitution (H168C) recapitulates an amino acid change observed in a human leukodystrophy. RT-PCR and sequence analyses identified two species of message in homozygous mutant mice; a normal length (450 bp) transcript containing the missense mutation and a 900 bp transcript produced by aberrant splicing of intron 4. Normal levels of normal length transcript were detected by Northern blot analysis, while the aberrant transcript was not. (J:78691)
Phenotypes
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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)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Galc Mutation:  5 strains or lines available
References
Original:  J:78691 Luzi P, et al., Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). Mol Genet Metab. 2001 Jul;73(3):211-23
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/17/2015
MGI 5.21
The Jackson Laboratory