Human Disease and Mouse Model Detail

Human Disease

Term: Spinal Muscular Atrophy, Type III; SMA3
OMIM ID: 253400

Synonyms

Kugelberg-Welander Syndrome; KWS; Muscular Atrophy, Juvenile; SMA III; Spinal Muscular Atrophy, Mild Childhood and Adolescent Form

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...

Smn1

SMN1

...both mouse and human orthologous genes.

Transgenes and
other mutation types

Tg(SMN1*A2G)2023Ahmb		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(SMN2)89Ahmb

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.¹
Smn1^tm1.1Dscd/Smn1^tm1.1Dscd		involves: 129S/SvEv * 129S4/SvJaeSor * C57BL/6	J:164889
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN1*A2G)2023Ahmb/0 Tg(SMN2)89Ahmb/0		involves: 129P2/OlaHsd * FVB/N	J:81238
Models involving transgenes or other mutation types.²
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN1*A2G)2023Ahmb/0 Tg(SMN2)89Ahmb/0		involves: 129P2/OlaHsd * FVB/N	J:81238

¹Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
²Models involving transgenes or other mutation types may also appear in other sections of the table.

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