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

Symbol:	Hexbtm1Grv
Name:	hexosaminidase B; targeted mutation 1, Roy A Gravel
MGI ID:	MGI:2429701
Synonyms:	Hexb-
Gene:	Hexb  Location: Chr13:97312839-97334865 bp, - strand  Genetic Position: Chr13, 50.66 cM
Alliance:	Hexbtm1Grv page

Germline Transmission:	Earliest citation of germline transmission: J:30899
Parent Cell Line:	Other (see notes) (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: Exon 2 was disrupted by a neomycin selection cassette inserted by homologous recombination. While transcript was undetected by Northern blot analysis of most tissues, truncated transcript was detected in homozygous mutant testes. Hydrolysis of 4-methylumbelliferyl-Beta-D-acetylglucosamine (MUG) and 4-MUG-6-sulfate (MUGS) were both reduced to 1.5% in homozygous mutant mice. Analysis of the aberrant 1.8 kb transcript showed that it did not contain a neo sequence and indicated that it was non-functional. (J:30899)

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

In Structures Affected by this Mutation:

8 anatomical structure(s)

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 Hexb Mutation:	91 strains or lines available

Original:	J:30899 Phaneuf D, et al., Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Hum Mol Genet. 1996 Jan;5(1):1-14
All:	12 reference(s)