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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 ganglioside in brain, much more so in Hexb -/- mice, and the latter also accumulate glycolipid GA2. Hexa -/- mice suffer no...

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PMID: 8789434
DOI: 10.1093/hmg/5.1.1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.PMID 8789434Read ↗

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Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.Semantic proximity Read ↗

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