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Phenotypes Associated with This Genotype
Genotype
MGI:6280332
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


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory