Hexa knock-out mice exhibit accumulation of GM2 ganglioside in the central nervous system. They are suitable for use in applications related to the study of Tay-Sachs disease in humans.
Richard L Proia, National Institutes of Health
Mice homozygous for the Hexatm1Rlp targeted mutation are viable and fertile. GM2 ganglioside accumulates in the central nervous system of homozygous mice and the neuropathology is similar to that of Tay-Sachs patients with the exception that not all neurons are affected in the mouse as in human beings. No neuronal storage was found in the cerebellum, the anterior horn of the spinal cord or the spinal ganglia. Only minor storage was present in the posterior horn of the spinal cord. There are no abnormal neurologic signs in homozygous mice by 5 months of age.
The Hexa-deficient mice were developed in the laboratory of Dr. Richard Proia at the National Institute of Diabetes and Digestive and Kidney Diseases. A neomycin resistance cassette was inserted into and disrupted exon 8 of the targeted locus. 129S4/SvJae-derived J1 ES cells were used. The Jackson Laboratory has used B6129SF1/J mice (Stock No. 101043) to generate the animals used for frozen stocks.
|Allele Name||targeted mutation 1, Richard L Proia|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||Hexa-; Tay-Sachs; Tay-Sachs hexa-|
|Gene Symbol and Name||Hexa, hexosaminidase A|
|Strain of Origin||129S4/SvJae|
|Molecular Note||A neomycin resistance cassette was inserted into and disrupted exon 8 of the gene. Northern blots of liver homogenates from homozygous mutant mice showed no detectable transcript. This mutation resulted in the production of no detectable functional protein.|
|Mutations Made By|| |
Richard Proia, National Institutes of Health
When maintaining a live colony, homozygous mice may be bred together.
When using the Hexa- mouse strain in a publication, please cite the originating article(s) and include JAX stock #002367 in your Materials and Methods section.