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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Gt(ROSA)26Sortm1.1(DUX4*)Plj
targeted mutation 1.1, Peter Jones
MGI:5707276
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sortm1.1(DUX4*)Plj B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)Plj MGI:6120560
ht2
 		Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+ B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)Plj MGI:6120559
cn3
 		Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Ndor1Tg(UBC-cre/ERT2)1Ejb/0 		involves: 129S/SvEv * C57BL/6 MGI:6120563
cn4
 		Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Tg(ACTA1-cre/Esr1*)2Kesr/0 		involves: C3H * C57BL/6 MGI:6120564
cn5
 		Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Edil3Tg(Sox2-cre)1Amc/0 		involves: C57BL/6 * CBA MGI:6120561
cn6
 		Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Tg(ACTA1-cre)79Jme/0 		involves: C57BL/6 * SJL MGI:6120562
cx7
 		Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Pax7tm1(cre/ERT2)Gaka/? 		involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl MGI:6120566


Genotype
MGI:6120560
hm1
Allelic
Composition		 Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sortm1.1(DUX4*)Plj
Genetic
Background		 B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)Plj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(DUX4*)Plj mutation (1 available); any Gt(ROSA)26Sor mutation (944 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
digestive/alimentary system
rectal prolapse ( J:256652 )
• some mice develop rectal prolapse after 6 months of age
abnormal defecation ( J:256652 )
• soft stools

endocrine/exocrine glands
preputial gland inflammation ( J:256652 )
• males develop an inflamed preputial gland

growth/size/body
decreased body weight ( J:256652 )
• adult mice are smaller than controls; weight gain peaks at 9 weeks and plateaus at 21-23 grams
• adults are 43% smaller than wild-type and 33% smaller than heterozygotes
• males are smaller from birth

integument
alopecia ( J:256652 )
• alopecia is more severe than in hemizygous mutant mice
• alopecia appears between 3-8 weeks of age

muscle
muscle phenotype ( J:256652 )
N
• mice exhibit no overt myopathy

reproductive system
preputial gland inflammation ( J:256652 )
• males develop an inflamed preputial gland

immune system
preputial gland inflammation ( J:256652 )
• males develop an inflamed preputial gland




Genotype
MGI:6120559
ht2
Allelic
Composition		 Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Genetic
Background		 B6(Cg)-Gt(ROSA)26Sortm1.1(DUX4*)Plj
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(DUX4*)Plj mutation (1 available); any Gt(ROSA)26Sor mutation (944 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
growth/size/body
decreased body weight ( J:256652 )
• adult size is slightly reduced
• male mice are 14% smaller than controls by 20 weeks of age
• female mice are 11% smaller than controls by 20 weeks of age
postnatal growth retardation ( J:256652 )
• males exhibit slower growth after 8 weeks of age
• females exhibit slower growth after 12 weeks of age

immune system
enlarged lymph nodes ( J:256652 )
• swollen subiliac lymph nodes

integument
alopecia ( J:256652 )
• mild alopecia
• phenotype is more severe in females than males

muscle
muscle phenotype ( J:256652 )
N
• mice exhibit no overt myopathy




Genotype
MGI:6120563
cn3
Allelic
Composition		 Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Ndor1Tg(UBC-cre/ERT2)1Ejb/0
Genetic
Background		 involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(DUX4*)Plj mutation (1 available); any Gt(ROSA)26Sor mutation (944 available)
Ndor1Tg(UBC-cre/ERT2)1Ejb mutation (6 available); any Ndor1 mutation (32 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
impaired righting response ( J:256652 )
• pups lose the righting reflex between 5-12 weeks of age
tremors ( J:256652 )
• between 5-12 weeks of age pups develop tremors
ataxia ( J:256652 )
• between 5-12 weeks of age pups develop progressive ataxia
seizures ( J:256652 )
• pups develop spontaneous seizures characterized by periods of wild and uncontrolled running by 12 weeks of age

immune system
enlarged lymph nodes ( J:256652 )
• swollen subiliac lymph nodes

integument
alopecia ( J:256652 )
• P10 pups exhibit mild alopecia by 3 weeks, progressing to severe alopecia by 12 weeks of age
retarded hair growth ( J:256652 )
• pups exhibit delayed fur growth at P10

nervous system
seizures ( J:256652 )
• pups develop spontaneous seizures characterized by periods of wild and uncontrolled running by 12 weeks of age

skeleton
kyphosis ( J:256652 )
• between 5-12 weeks of age pups develop severe kyphosis




Genotype
MGI:6120564
cn4
Allelic
Composition		 Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Tg(ACTA1-cre/Esr1*)2Kesr/0
Genetic
Background		 involves: C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(DUX4*)Plj mutation (1 available); any Gt(ROSA)26Sor mutation (944 available)
Tg(ACTA1-cre/Esr1*)2Kesr mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
behavior/neurological
ataxia ( J:256652 )
• mice exhibit ataxia within 7-8 days following IP injection of TMX
decreased grip strength ( J:256652 )
• mice exhibit loss of strength (hanging test) within 7-8 days following IP injection of TMX

muscle
skeletal muscle necrosis ( J:256652 )
• necrosis and phagocytosis are observed at time of euthanasia (9 days post TMX)
decreased skeletal muscle fiber size ( J:256652 )
• muscle from untreated mice has small irregular fibers
increased variability of skeletal muscle fiber size ( J:256652 )
• heterogeneous fiber size distribution at time of euthanasia (9 days post TMX)
• muscle from untreated mice has small irregular fibers
centrally nucleated skeletal muscle fibers ( J:256652 )
• muscle from untreated mice has patches of centralized nuclei
skeletal muscle fibrosis ( J:256652 )
• skeletal muscle tissues are mildly fibrotic at time of euthanasia (9 days post TMX)
myopathy ( J:256652 )
• Tamoxifen (TMX)-treated mice exhibit progressive myopathy
• untreated mice exhibit a mild muscle phenotype

growth/size/body
weight loss ( J:256652 )
• mice exhibit weight loss within 7-8 days following IP injection of TMX

immune system
increased acute inflammation ( J:256652 )
• skeletal muscle tissues exhibit large infiltrates of mononuclear cells and loss of membrane integrity at time of euthanasia (9 days post TMX)

cellular
skeletal muscle necrosis ( J:256652 )
• necrosis and phagocytosis are observed at time of euthanasia (9 days post TMX)

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
facioscapulohumeral muscular dystrophy DOID:11727 J:256652




Genotype
MGI:6120561
cn5
Allelic
Composition		 Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Edil3Tg(Sox2-cre)1Amc/0
Genetic
Background		 involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3Tg(Sox2-cre)1Amc mutation (5 available); any Edil3 mutation (42 available)
Gt(ROSA)26Sortm1.1(DUX4*)Plj mutation (1 available); any Gt(ROSA)26Sor mutation (944 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:6120562
cn6
Allelic
Composition		 Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Tg(ACTA1-cre)79Jme/0
Genetic
Background		 involves: C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(DUX4*)Plj mutation (1 available); any Gt(ROSA)26Sor mutation (944 available)
Tg(ACTA1-cre)79Jme mutation (2 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality ( J:256652 )
• pups are stillborn and small
• pups develop until almost full term (E19.5)

limbs/digits/tail
abnormal limb morphology ( J:256652 )
• E16.5 embryos exhibit deformed limbs

growth/size/body
decreased fetal size ( J:256652 )
• observed in E16.5 embryos

nervous system
abnormal spinal cord morphology ( J:256652 )
• E16.5 embryos exhibit aberrant spinal columns

skeleton
small thoracic cage ( J:256652 )
• E16.5 embryos exhibit underdeveloped rib cages




Genotype
MGI:6120566
cx7
Allelic
Composition		 Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Pax7tm1(cre/ERT2)Gaka/?
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1.1(DUX4*)Plj mutation (1 available); any Gt(ROSA)26Sor mutation (944 available)
Pax7tm1(cre/ERT2)Gaka mutation (1 available); any Pax7 mutation (39 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:256652 )
• mice are viable and healthy in the absence of tamoxifen




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Send questions and comments to User Support. 		last database update
05/07/2024
MGI 6.23 		The Jackson Laboratory