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Human Disease and Mouse Model Detail
Human Disease

Term: Amyotrophic Lateral Sclerosis 1; ALS1
OMIM ID: 105400

Synonyms Amyotrophic Lateral Sclerosis 1, Familial; FALS
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...
     
Cybb CYBB
Isl1 ISL1
Sod2 SOD2
Vegfa VEGFA
  mouse...the mouse gene.
     OMIM data currently do not associate this disease with the orthologous human gene.
     
Dctn1 DCTN1
Nefh NEFH
Prph PRPH
Sod1 SOD1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Transgenes and
other mutation types
Tg(NEFH)200Jpj   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(NFH)120Jpj
Tg(Prnp-SOD1*G37R,-PSEN1)110Dbo
Tg(SOD1*)125Dbo
Tg(SOD1)2Gur
Tg(SOD1*A4V)A1073Gur
Tg(SOD1*)DF7Yaw
Tg(SOD1*G127X)716Mrkl
Tg(SOD1*G37R)106Dpr
Tg(SOD1*G37R)1Dwc
Tg(SOD1*G37R)29Dpr
Tg(SOD1*G37R)42Dpr
Tg(SOD1*G37R)9Dpr
Tg(SOD1*G85R)148Dwc
Tg(SOD1*G85R)74Dwc
Tg(SOD1*G85R)#Roos
Tg(Sod1*G86R)M1Jwg
Tg(SOD1*G93A)1Gur
Tg(SOD1*G93A)2Gur
Tg(SOD1*G93A)
1Gur
Tg(SOD1*H46R*H48Q)139Dbo
Tg(SOD1*H46R*H48Q)58Dbo
Tg(SOD1*H46R)#Maw
Tg(SOD1*L126Z)#Deng
Tg(Thy1-Sncg)HvP36Putt
Tg(Thy1-SOD1*G93A)T1Hgrd
Tg(Thy1-SOD1*G93A)T3Hgrd
Tg(Thy1-TARDBP)4Singh
Tg(Thy1-TARDBP)6Singh

Mouse Models
Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies are distinct.1
Cybbtm1Din/Y
Tg(SOD1*G93A)dl1Gur/0		   B6.Cg-Cybbtm1Din Tg(SOD1*G93A)dl1Gur J:111782
Isl1tm1(cre)Tmj/Isl1+
Tg(SOD1*G37R)1Dwc/0		 3 involves: 129X1/SvJ * C57BL/6 J:109131
Sod2tm1Cje/Sod2tm1Cje   involves: C57BL/6J J:45913
Vegfatm2Pec/Vegfatm2Pec   involves: 129S1/Sv * 129X1/SvJ J:69797
Models involving transgenes or other mutation types.2
Cybbtm1Din/Y
Tg(SOD1*G93A)dl1Gur/0		   B6.Cg-Cybbtm1Din Tg(SOD1*G93A)dl1Gur J:111782
Isl1tm1(cre)Tmj/Isl1+
Tg(SOD1*G37R)1Dwc/0		 3 involves: 129X1/SvJ * C57BL/6 J:109131
Tg(ITGAM-cre)2781Gkl/0
Tg(SOD1*G37R)1Dwc/0		 3 involves: C57BL/6 * CBA J:109131
Tg(NEFH)200Jpj/0   Not Specified J:69180
Tg(NEFH)200Jpj/Tg(NEFH)200Jpj   Not Specified J:69180
Tg(NFH)120Jpj/Tg(NFH)120Jpj   Not Specified J:69180
Tg(NFH)120Jpj/0   Not Specified J:69180
Tg(Prnp-SOD1*G37R,-PSEN1)110Dbo/Tg(Prnp-SOD1*G37R,-PSEN1)110Dbo   involves: C3H * C57BL/6 J:104655
Tg(SOD1)2Gur/0
Tg(SOD1*A4V)A1073Gur/0		   involves: C57BL/6 * SJL J:109458
Tg(SOD1)2Gur/0
Tg(SOD1*G93A)1Gur/0		   involves: C57BL/6 * SJL J:109458
Tg(SOD1)2Gur/0
Tg(SOD1*L126Z)#Deng/0		   involves: C57BL/6 * SJL J:109458
Tg(SOD1)2Gur/0
Tg(SOD1*G85R)#Roos/0		   involves: C57BL/6 * C57BL/6J * SJL J:147156
Tg(SOD1*)125Dbo/?   involves: C3H/HeJ * C57BL/6J J:86421
Tg(SOD1*)DF7Yaw/Tg(SOD1*)DF7Yaw   C57BL/6-Tg(SOD1*)DF7Yaw J:97932
Tg(SOD1*)DF7Yaw/0   C57BL/6-Tg(SOD1*)DF7Yaw J:97932
Tg(SOD1*G127X)716Mrkl/Tg(SOD1*G127X)716Mrkl   B6JBom.Cg-Tg(SOD1*G127X)716Mrkl J:175594
Tg(SOD1*G37R)106Dpr/0   involves: C3H/HeJ * C57BL/6J J:69178
Tg(SOD1*G37R)29Dpr/0   involves: C3H/HeJ * C57BL/6J J:69178, J:119631
Tg(SOD1*G37R)42Dpr/0   involves: C3H/HeJ * C57BL/6J J:69178
Tg(SOD1*G37R)9Dpr/0   involves: C3H/HeJ * C57BL/6J J:69178
Tg(SOD1*G85R)#Roos/0   involves: C57BL/6J J:147156
Tg(SOD1*G85R)148Dwc/?   Not Specified J:77600
Tg(SOD1*G85R)74Dwc/?   Not Specified J:77600
Tg(Sod1*G86R)M1Jwg/0   involves: FVB/N J:22628, J:58733, J:91800
Tg(SOD1*G93A)1Gur/0   B6SJL-Tg(SOD1*G93A)1Gur J:144199
Tg(SOD1*G93A)1Gur/0   B6SJL-Tg(SOD1*G93A)1Gur/J J:133155, J:143173, J:146652
Tg(SOD1*G93A)1Gur/0   B6.Cg-Tg(SOD1*G93A)1Gur J:155140
Tg(SOD1*G93A)1Gur/0   involves: C57BL/6 * SJL J:76718, J:91800, J:109458, J:130581
Tg(SOD1*G93A)2Gur/0   involves: C57BL/6 * SJL J:32665, J:78629, J:89928
Tg(SOD1*G93A)dl1Gur/0   involves: C57BL/6 * SJL J:106420
Tg(SOD1*H46R)#Maw/0   involves: C57BL/6 * DBA/2 J:99701
Tg(SOD1*H46R*H48Q)139Dbo/0   involves: C3H/HeJ * C57BL/6J J:119631
Tg(SOD1*H46R*H48Q)58Dbo/0   involves: C3H/HeJ * C57BL/6J J:119631
Tg(SOD1*L126Z)#Deng/0   involves: C57BL/6 * SJL J:109458
Tg(Thy1-Sncg)HvP36Putt/?   C57BL/6-Tg(Thy1-Sncg)HvP36Putt J:185793
Tg(Thy1-SOD1*G93A)T1Hgrd/0
Tg(Thy1-SOD1*G93A)T3Hgrd/0		   involves: C57BL/6 * CBA * FVB J:134095
Tg(Thy1-SOD1*G93A)T3Hgrd/Tg(Thy1-SOD1*G93A)T3Hgrd   involves: C57BL/6 * CBA * FVB J:134095
Tg(Thy1-TARDBP)4Singh/0   involves: C57BL/6J * SJL/J J:157550
Tg(Thy1-TARDBP)4Singh/Tg(Thy1-TARDBP)4Singh   involves: C57BL/6J * SJL/J J:157550
Tg(Thy1-TARDBP)6Singh/Tg(Thy1-TARDBP)6Singh   involves: C57BL/6 * C57BL/6J * SJL J:157550

1Human genes are associated with this disease. Mouse model genotypes do not 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.
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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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory