Phenotypes associated with this allele

• Allele Symbol: Gt(ROSA)26Sor^tm1(DUX4)Sqh
• Allele Name: targeted mutation 1, Scott Harper
• Allele ID: MGI:6273758
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gt(ROSA)26Sor^tm1(DUX4)Sqh/Gt(ROSA)26Sor^+ Tg(ACTA1-rtTA,tetO-cre)102Monk/0	involves: 129S6/SvEvTac * C3H * C57BL/6	MGI:6280331
cn2	Gt(ROSA)26Sor^tm1(DUX4)Sqh/Gt(ROSA)26Sor^+ Tg(ACTA1-cre/Esr1*)2Kesr/0	involves: 129S6/SvEvTac * C3H * C57BL/6	MGI:6280332
cn3	Gt(ROSA)26Sor^tm1(DUX4)Sqh/Gt(ROSA)26Sor^+ Tg(ACTA1-cre)79Jme/0	involves: 129S6/SvEvTac * C57BL/6J * SJL	MGI:6280330

Genotype
MGI:6280331

cn1

• Allelic Composition: Gt(ROSA)26Sor^tm1(DUX4)Sqh/Gt(ROSA)26Sor⁺; Tg(ACTA1-rtTA,tetO-cre)102Monk/0
• Genetic Background: involves: 129S6/SvEvTac * C3H * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

decreased survivor rate ( J:268959 )

• less than 3% of the expected 25% of mutant pups are born and those pups then die immediately

Genotype
MGI:6280332

cn2

• Allelic Composition: Gt(ROSA)26Sor^tm1(DUX4)Sqh/Gt(ROSA)26Sor⁺; Tg(ACTA1-cre/Esr1*)2Kesr/0
• Genetic Background: involves: 129S6/SvEvTac * C3H * C57BL/6

muscle

decreased skeletal muscle fiber diameter ( J:268959 )

• medium dose (5 mg/kg x 3 days/week) administration of tamoxifen by oral gavage results in smaller fiber diameters

centrally nucleated skeletal muscle fibers ( J:268959 )

• 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

skeletal muscle fiber degeneration ( J:268959 )

• 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

decreased skeletal muscle mass ( J:268959 )

• TA muscles in uninduced 1.5 year old mice are 33% smaller than controls with reduced absolute force output

muscle weakness ( J:268959 )

• 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

abnormal acute inflammation ( J:268959 )

• 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

abnormal gait ( J:268959 )

• 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

decreased vertical activity ( J:268959 )

• medium dose (5 mg/kg x 3 days/week) administration of tamoxifen by oral gavage results in a reduction in rearing frequency

decreased locomotor activity ( J:268959 )

• 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:6280330

cn3

• Allelic Composition: Gt(ROSA)26Sor^tm1(DUX4)Sqh/Gt(ROSA)26Sor⁺; Tg(ACTA1-cre)79Jme/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * SJL

mortality/aging

prenatal lethality ( J:268959 )

• no mutant pups are produced