Glb1<tm1Adz> Targeted Allele Detail MGI Mouse (MGI:3579514)

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)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

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)

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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