Human Disease and Mouse Model Detail

Human Disease

Term: Muscular Dystrophy, Limb-Girdle, Type 1A; LGMD1A
OMIM ID: 159000

Synonyms

LGMD1; Muscular Dystrophy, Proximal, Type 1A

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...

Myot

MYOT

...the human gene.
MGI data currently do not associate this disease with mutations in the orthologous mouse gene.

Transgenes and
other mutation types

Tg(ACTA1-MYOT*T57I)71Mah

Characteristics of this human disease are associated with transgenes and other mutation types in mouse.

Mouse Models

Genotype				Ref(s)
Allelic Composition		Note	Genetic Background
Models involving transgenes or other mutation types.¹
Tg(ACTA1-MYOT*T57I)71Mah/?			involves: C57BL/6 * SJL	J:110377
No similarity to the expected human disease phenotype was found.²
NOT	Myot^tm1.1Moza/Myot^tm1.1Moza		involves: 129S1/Sv * 129X1/SvJ * ICR	J:117709

¹Models involving transgenes or other mutation types may also appear in other sections of the table.
²One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.

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