Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.

doi:10.1093/hmg/5.1.1

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Article

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.

Human molecular genetics - 1 Jan 1996

Phaneuf D, Wakamatsu N, Huang J Q, Borowski A, Peterson A C, Fortunato S R, Ritter G, Igdoura S A, Morales C R, Benoit G, Akerman B R, Leclerc D, Hanai N, Marth J D, Trasler J M, Gravel R A

Abstract excerpt

We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the Hexa (alpha subunit) or Hexb (beta subunit) genes, respectively, encoding lysosomal beta-hexosaminidase A (structure, alpha) and B (structure, beta beta). Both mutant mice accumulate GM2 ganglios...

Topics

Animals
Base Sequence
Brain Chemistry
Brain Injuries
Disease Models, Animal
Female
G(M2) Ganglioside
Gene Targeting
Glycosphingolipids
Hexosaminidase A
Hexosaminidase B
Humans
Liver
Male

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Mice

Mice, Inbred C57BL

Mice, Knockout

Molecular Sequence Data

Source

Open in PubMed

Identifiers

PMID: 8789434
DOI: 10.1093/hmg/5.1.1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8789434-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.