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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(ACTA1-cre/Esr1*)2Kesr
transgene insertion 2, Karyn A Esser
MGI:5435875
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Gt(ROSA)26Sortm1(DUX4)Sqh/Gt(ROSA)26Sor+
Tg(ACTA1-cre/Esr1*)2Kesr/0
involves: 129S6/SvEvTac * C3H * C57BL/6 MGI:6280332
cn2
Bsgtm1Itl/Bsgtm1Itl
Tg(ACTA1-cre/Esr1*)2Kesr/0
involves: 129S/SvEv * C3H * C57BL/6 MGI:6467231
cn3
Gt(ROSA)26Sortm1.1(DUX4*)Plj/Gt(ROSA)26Sor+
Tg(ACTA1-cre/Esr1*)2Kesr/0
involves: C3H * C57BL/6 MGI:6120564
cn4
Fam210atm1c(EUCOMM)Wtsi/Fam210atm1c(EUCOMM)Wtsi
Tg(ACTA1-cre/Esr1*)2Kesr/0
involves: C3H * C57BL/6N * SJL MGI:6159280


Genotype
MGI:6280332
cn1
Allelic
Composition
Gt(ROSA)26Sortm1(DUX4)Sqh/Gt(ROSA)26Sor+
Tg(ACTA1-cre/Esr1*)2Kesr/0
Genetic
Background
involves: 129S6/SvEvTac * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sortm1(DUX4)Sqh mutation (1 available); any Gt(ROSA)26Sor mutation (993 available)
Tg(ACTA1-cre/Esr1*)2Kesr mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
• medium dose (5 mg/kg x 3 days/week) administration of tamoxifen by oral gavage results in smaller fiber diameters
• medium dose (5 mg/kg x 3 days/week) administration of tamoxifen by oral gavage results in diaphragms from 6 out of 18 mice that exhibit myofibers with greater than 10% central nuclei
• high dose (150 mg/kg) administration of tamoxifen by oral gavage results in severe muscle degeneration in skeletal muscle within 7-9 days
• medium dose (5 mg/kg x 3 days/week) administration of tamoxifen by oral gavage results in damage to tibialis anterior, gastrocnemius, quadriceps and triceps within 4 weeks
• at 0.5mg/kg tamoxifen administration results in a decrease in mild sporadic lesions beginning at 1 month, with a dramatic increase in severity by 3 and 4 months
• TA muscles in uninduced 1.5 year old mice are 33% smaller than controls with reduced absolute force output
• medium dose (5 mg/kg x 3 days/week) administration of tamoxifen by oral gavage results in muscle weakness
• TA muscles in uninduced 1.5 year old mice develop reduced absolute force output

immune system
• high dose (150 mg/kg) administration of tamoxifen by oral gavage results in immune cell infiltrates in skeletal muscle within 7-9 days

behavior/neurological
• administration of tamoxifen (high dose - 150 mg/kg) by oral gavage results in a slow, unsteady gait, by 10 days mice are non-ambulatory
• administration of tamoxifen (medium dose - 5 mg/kg) by oral gavage results in gait changes within 3 weeks
• medium dose (5 mg/kg x 3 days/week) administration of tamoxifen by oral gavage results in a reduction in rearing frequency
• high dose (150 mg/kg) administration of tamoxifen by oral gavage results in a reduction in overall activity, by 10 days mice are non-ambulatory
• medium dose (5 mg/kg x 3 days/week) administration of tamoxifen by oral gavage results in a reduction in total activity
• at 0.5mg/kg tamoxifen administration results in a decrease in activity beginning at 1 month, with significant reduction by 2 months, however mice recover to wild-type levels by 3-4 months

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
facioscapulohumeral muscular dystrophy DOID:11727 J:268959




Genotype
MGI:6467231
cn2
Allelic
Composition
Bsgtm1Itl/Bsgtm1Itl
Tg(ACTA1-cre/Esr1*)2Kesr/0
Genetic
Background
involves: 129S/SvEv * C3H * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bsgtm1Itl mutation (0 available); any Bsg mutation (17 available)
Tg(ACTA1-cre/Esr1*)2Kesr mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle
N
• tamoxifen-treated mice exhibit normal exercise capacity and muscle ex vivo contractile properties

nervous system
N
• tamoxifen-treated mice exhibit normal motorneurons




Genotype
MGI:6120564
cn3
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 (993 available)
Tg(ACTA1-cre/Esr1*)2Kesr mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice exhibit ataxia within 7-8 days following IP injection of TMX
• mice exhibit loss of strength (hanging test) within 7-8 days following IP injection of TMX

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

growth/size/body
• mice exhibit weight loss within 7-8 days following IP injection of TMX

immune system
• skeletal muscle tissues exhibit large infiltrates of mononuclear cells and loss of membrane integrity 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:6159280
cn4
Allelic
Composition
Fam210atm1c(EUCOMM)Wtsi/Fam210atm1c(EUCOMM)Wtsi
Tg(ACTA1-cre/Esr1*)2Kesr/0
Genetic
Background
involves: C3H * C57BL/6N * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fam210atm1c(EUCOMM)Wtsi mutation (1 available); any Fam210a mutation (17 available)
Tg(ACTA1-cre/Esr1*)2Kesr mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• in tamoxifen-treated mice
• in tamoxifen-treated male mice

behavior/neurological
• in tamoxifen-treated mice

limbs/digits/tail
• decreased lean muscle mass in all limbs of tamoxifen-treated mice

growth/size/body
N
• tamoxifen-treated mice exhibit normal body weight

immune system
• in tamoxifen-treated mice

hematopoietic system
• in tamoxifen-treated mice





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory