Galc^tm1Wngr
Targeted Allele Detail

Summary

• Symbol: Galc^tm1Wngr
• Name: galactosylceramidase; targeted mutation 1, David A Wenger
• MGI ID: MGI:2385783
• Gene: Galc Location: Chr12:98168553-98225718 bp, - strand Genetic Position: Chr12, 49.83 cM
• Alliance: Galc^tm1Wngr page

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 (Humanized sequence, Hypomorph)
• Mutation: Single point mutation
• Mutation details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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: 46 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)