Human Disease and Mouse Model Detail

Human Disease

Term: Tay-Sachs Disease; TSD
OMIM ID: 272800

Synonyms

B Variant Gm2-Gangliosidosis; GM2-Gangliosidosis, Type I; Hexosaminidase A Deficiency

Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene

Human Gene

Characteristics of this human disease are associated with mutations in...

Hexa

HEXA

...both mouse and human orthologous genes.

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Hexa^tm1Cota/Hexa^tm1Cota		involves: 129S2/SvPas * C57BL/6	J:30435
Hexa^tm1Grv/Hexa^tm1Grv		involves: 129P2/Ola * C57BL/6J	J:30899
Hexa^tm1Rlp/Hexa^tm1Rlp		involves: 129S4/SvJae * C57BL/6	J:21008

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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