Glb1^tm1Adz
Targeted Allele Detail

Summary

• Symbol: Glb1^tm1Adz
• Name: galactosidase, beta 1; targeted mutation 1, Alessandra d'Azzo
• MGI ID: MGI:3579514
• Synonyms: Beta-gal^-, Glb1^tm1Azzo, GM1 gangliosidosis bgal^-
• Gene: Glb1 Location: Chr9:114230146-114303447 bp, + strand Genetic Position: Chr9, 64.4 cM
• Alliance: Glb1^tm1Adz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:38620
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: A neomycin resistance gene was inserted into exon 6. Northern blot of kidney, brain and liver from 1 month old mice confirmed absence of transcript. (J:38620)

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Glb1 Mutation: 50 strains or lines available

References

• Original: J:38620 Hahn CN, et al., Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase. Hum Mol Genet. 1997 Feb;6(2):205-11
• All: 23 reference(s)