About   Help   FAQ
Targeted Allele Detail
Symbol: Hexbtm1Grv
Name: hexosaminidase B; targeted mutation 1, Roy A Gravel
MGI ID: MGI:2429701
Synonyms: Hexb-
Gene: Hexb  Location: Chr13:97176332-97198357 bp, - strand  Genetic Position: Chr13, 50.66 cM
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 detailsExon 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 for all genotypes (concatenated display).
Disease models
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 Hexb Mutation:  64 strains or lines available

ES cell line = CGR8 (129P2/OlaHsd) or R1 ((129X1/SvJ x 129S1/Sv)F1-Kitl+).

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:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.0
The Jackson Laboratory