Human Disease and Mouse Model Detail

Human Disease

Term: Spinal Muscular Atrophy, Type I; SMA1
OMIM ID: 253300

Synonyms

Muscular Atrophy, Infantile; SMA I; SMA, Infantile Acute Form; Werdnig-Hoffmann Disease

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...

Mnx1	MNX1
Olig2	OLIG2
Smn1	SMN1
Vps54	VPS54

...the mouse gene.
OMIM data currently do not associate this disease with the orthologous human gene.

Transgenes and
other mutation types

Tg(ACTA1-SMN)69Ahmb		Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(Prnp-SMN)92Ahmb
Tg(SMN1*A2G)2023Ahmb
Tg(SMN2)11Tro
Tg(SMN2)2Hung
Tg(SMN2)46Tro
Tg(SMN2)89Ahmb
Tg(SMN2*delta7)4299Ahmb

Mouse Models

Genotype			Ref(s)
Allelic Composition	Note	Genetic Background	Ref(s)
Models with phenotypic similarity to human diseases where etiology is unknown or involving genes where ortholog is unknown.¹
Mnx1^tm4(cre)Tmj/Mnx1⁺ Smn1^tm1Cdid/Smn1^tm1Cdid Tg(SMN2)89Ahmb/0	3	involves: 129 * 129S1/Sv * C57BL/6 * FVB	J:183080
Olig2^tm1(cre)Tmj/Olig2⁺ Smn1^tm1Jme/Smn1^tm1Msd Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb	3	involves: 129 * 129P2/OlaHsd * FVB/N	J:164292
Smn1^tm1Cdid/Smn1^tm1Cdid Tg(SMN2)89Ahmb/0		involves: 129 * C57BL/6 * FVB	J:183080
Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung/Tg(SMN2)2Hung		involves: 129P2/OlaHsd * FVB/N	J:59313
Smn1^tm1Jme/Smn1^tm1.1Jme Tg(ACTA1-cre)79Jme/0	3	involves: 129 * C57BL/6 * SJL	J:67884
Smn1^tm1Jme/Smn1^tm1Jme Tg(Eno2-cre)39Jme/0	3	involves: 129 * C57BL/6J * SJL	J:89836
Smn1^tm1Jme/Smn1^tm1.1Jme Tg(Eno2-cre)39Jme/0	3	involves: 129 * C57BL/6 * SJL	J:61396
Smn1^tm1Msd/Smn1^tm1Rako		involves: 129P2/OlaHsd * C57BL/6 * CD-1	J:154248
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)11Tro/0 Tg(SMN2)46Tro/0		B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1^tm1Msd/J	J:159930
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb Tg(SMN2delta7)4299Ahmb/Tg(SMN2delta7)4299Ahmb		FVB.Cg-Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb Smn1^tm1Msd/J	J:164446
Smn1^tm1Msd/Smn1^tm1Msd Tg(ACTA1-SMN)69Ahmb/Tg(ACTA1-SMN)69Ahmb Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb		involves: 129P2/OlaHsd * FVB/N	J:131663
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN1*A2G)2023Ahmb/0 Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb		involves: 129P2/OlaHsd * FVB/N	J:131663
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb Tg(SMN2delta7)4299Ahmb/Tg(SMN2delta7)4299Ahmb		involves: 129P2/OlaHsd * FVB/N	J:164444
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)89Ahmb/?		involves: 129P2/OlaHsd * C57BL/6J * FVB	J:60592
Smn1^tm1Msd/Smn1^tm1Msd Tg(Prnp-SMN)92Ahmb/Tg(Prnp-SMN)92Ahmb Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb		involves: 129P2/OlaHsd * FVB/N	J:131663
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb Tg(SMN2delta7)4299Ahmb/Tg(SMN2delta7)4299Ahmb		FVB.Cg-Smn1^tm1Msd Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb	J:97103
Vps54^wr/Vps54^wr		multiple strains	J:6388
Models involving transgenes or other mutation types.²
Mnx1^tm4(cre)Tmj/Mnx1⁺ Smn1^tm1Cdid/Smn1^tm1Cdid Tg(SMN2)89Ahmb/0	3	involves: 129 * 129S1/Sv * C57BL/6 * FVB	J:183080
Olig2^tm1(cre)Tmj/Olig2⁺ Smn1^tm1Jme/Smn1^tm1Msd Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb	3	involves: 129 * 129P2/OlaHsd * FVB/N	J:164292
Smn1^tm1Cdid/Smn1^tm1Cdid Tg(SMN2)89Ahmb/0		involves: 129 * C57BL/6 * FVB	J:183080
Smn1^tm1Hung/Smn1^tm1Hung Tg(SMN2)2Hung/Tg(SMN2)2Hung		involves: 129P2/OlaHsd * FVB/N	J:59313
Smn1^tm1Msd/Smn1^tm1Msd Tg(Prnp-SMN)92Ahmb/Tg(Prnp-SMN)92Ahmb Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb		involves: 129P2/OlaHsd * FVB/N	J:131663
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)89Ahmb/?		involves: 129P2/OlaHsd * C57BL/6J * FVB	J:60592
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb Tg(SMN2delta7)4299Ahmb/Tg(SMN2delta7)4299Ahmb		FVB.Cg-Smn1^tm1Msd Tg(SMN2)89Ahmb Tg(SMN2*delta7)4299Ahmb	J:97103
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)11Tro/0 Tg(SMN2)46Tro/0		B6.Cg-Tg(SMN2)11Tro Tg(SMN2)46Tro Smn1^tm1Msd/J	J:159930
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb Tg(SMN2delta7)4299Ahmb/Tg(SMN2delta7)4299Ahmb		FVB.Cg-Tg(SMN2*delta7)4299Ahmb Tg(SMN2)89Ahmb Smn1^tm1Msd/J	J:164446
Smn1^tm1Msd/Smn1^tm1Msd Tg(ACTA1-SMN)69Ahmb/Tg(ACTA1-SMN)69Ahmb Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb		involves: 129P2/OlaHsd * FVB/N	J:131663
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb Tg(SMN2delta7)4299Ahmb/Tg(SMN2delta7)4299Ahmb		involves: 129P2/OlaHsd * FVB/N	J:164444
Smn1^tm1Msd/Smn1^tm1Msd Tg(SMN1*A2G)2023Ahmb/0 Tg(SMN2)89Ahmb/Tg(SMN2)89Ahmb		involves: 129P2/OlaHsd * FVB/N	J:131663

¹The causal human genes for this disease have not been identified. Genotypes may include cases where the mouse structural gene or the human ortholog has not been identified.
²Models involving transgenes or other mutation types may also appear in other sections of the table.
³Conditionally targeted allele(s)

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