Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Glb1tm1Adz
Name:	galactosidase, beta 1; targeted mutation 1, Alessandra d'Azzo
MGI ID:	MGI:3579514
Synonyms:	Beta-gal-, Glb1tm1Azzo, GM1 gangliosidosis bgal-
Gene:	Glb1  Location: Chr9:114230146-114303447 bp, + strand  Genetic Position: Chr9, 64.4 cM
Alliance:	Glb1tm1Adz page

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

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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

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:	20 reference(s)