All Phenotypes Tg(ACTA1-cre/Esr1*)2Kesr MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Gt(ROSA)26Sor^{tm7(Pik3ca,-EGFP)Rsky}/Gt(ROSA)26Sor⁺ Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺ Tg(ACTA1-cre/Esr1)2Kesr/0	involves: 129S1/Sv * 129X1/SvJ * C3H * C57BL/6J	MGI:8268434
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	Bsg^tm1Itl/Bsg^tm1Itl Tg(ACTA1-cre/Esr1*)2Kesr/0	involves: 129S/SvEv * C3H * C57BL/6	MGI:6467231
cn4	Gt(ROSA)26Sor^{tm1.1(DUX4)Plj}/Gt(ROSA)26Sor⁺ Tg(ACTA1-cre/Esr1)2Kesr/0	involves: C3H * C57BL/6	MGI:6120564
cn5	Styxl2^tm1Nju/Styxl2^tm1Nju Tg(ACTA1-cre/Esr1*)2Kesr/0	involves: C3H * C57BL/6	MGI:7781777
cn6	Fam210a^{tm1c(EUCOMM)Wtsi}/Fam210a^{tm1c(EUCOMM)Wtsi} Tg(ACTA1-cre/Esr1*)2Kesr/0	involves: C3H * C57BL/6N * SJL	MGI:6159280

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

growth/size/body

abnormal body weight ( J:370764 )

• mice administered alpelisib, a PIK3CA inhibitor, daily starting 48 hours after cre induction (preventative alpelisib) exhibit a normal appearance during the 22 weeks of treatment and a body weight increase similar to that of controls

• mice administered alpelisib 2 weeks after cre induction when global muscle hypertrophy is already prominent for 20 additional weeks (therapeutic alpelisib), show a rapid body weight decrease

• 6-week-old mice treated with tamoxifen for 5 days show progressive weight gain starting at 3 weeks after treatment which is not seen in wild-type mice and around 11 weeks after induction in males and 24 weeks in females, body weight becomes lower than in wild-type mice

muscle

abnormal skeletal muscle morphology ( J:370764 )

• mitochondrial mass is reduced in striated muscle cells of tamoxifen-treated mice

skeletal muscle hypertrophy ( J:370764 )

• mice show skeletal muscle hypertrophy at 15 weeks after tamoxifen, with hypertrophic striated cells

• mice administered alpelisib, a PIK3CA inhibitor, daily starting 48 hours after cre induction (preventative alpelisib) exhibit no skeletal muscle overgrowth 8 weeks after alpelisib initiation indicating that alpelisib prevents skeletal muscle overgrowth

• mice treated with therapeutic alpelisib show a reduction in muscular volume and striated muscle is conserved indicating that alpelisib reverses skeletal muscle overgrowth

abnormal muscle physiology ( J:370764 )

• striated muscle cells from tamoxifen-treated mice show an alteration in the mitochondrial transmembrane potential

increased muscle cell glucose uptake ( J:370764 )

• tamoxifen-treated mice show higher fluoro-D-glucose muscular uptake

adipose tissue

decreased total body fat amount ( J:370764 )

• tamoxifen-treated mice show reduced fat content

behavior/neurological

increased grip strength ( J:370764 )

• tamoxifen-treated mice show a gain in muscle strength

cellular

increased muscle cell glucose uptake ( J:370764 )

• tamoxifen-treated mice show higher fluoro-D-glucose muscular uptake

abnormal mitochondrial physiology ( J:370764 )

• striated muscle cells from tamoxifen-treated mice show an alteration in the mitochondrial transmembrane potential

homeostasis/metabolism

abnormal blood homeostasis ( J:370764 )

• plasma metabolites metabolomics analysis of tamoxifen-treated mice show metabolic changes with increases in acetyl-aspartate, acetyl-glutamine, acetyl-lysine, aminoadipate, ATP, camosine, citrate, creatinine, cytidine, decanoic acid, dodecanoyl-carnitine, dodecanoic acid/lauric acid, docosahexaenoic acid, hexanoic acid, hexanoyl-carnitine, linoleic acid, linolenic acid, methyl-lysine, myristic acid, myristoyl-carnitine, octanoyl-carnitine, oleic acid, O-phosphoethanolamine, palmitic acid, palmitoyl-carnitine, palmitoleic acid, phosphocreatine, riboflavin, S-adenosyl-L-homocysteine, and taurine, and decreases in glutamate, glucose, L-alanine, lysine, methionine, ornithine, threonine, tryptophan, and tyrosine

• alpelisib treatment results in partial correction of the different metabolic anomalies

hypoglycemia ( J:370764 )

• tamoxifen-treated mice are hypoglycemic

• mice treated with preventative alpelisib show normal 12-h fasted glycemia

• mice treated with therapeutic alpelisib show increased blood glucose levels

decreased circulating insulin level ( J:370764 )

• mice treated with therapeutic alpelisib show increased insulin levels

• however, mice show conserved insulin secretion in the oral glucose tolerance test

• mice treated with preventative alpelisib show corrected circulating insulin levels

• tamoxifen-treated mice exhibit low insulin levels

decreased circulating insulin-like growth factor I level ( J:370764 )

• tamoxifen-treated mice show low IGF1 levels

• mice treated with preventative alpelisib show corrected IGF1 levels

• mice treated with therapeutic alpelisib show increased circulating IGF1 levels

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1(DUX4)Sqh mutation (1 available); any Gt(ROSA)26Sor mutation (1058 available)
Tg(ACTA1-cre/Esr1*)2Kesr mutation (2 available)

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

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

Allelic Composition	Bsg^tm1Itl/Bsg^tm1Itl 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:
Bsg^tm1Itl mutation (0 available); any Bsg mutation (16 available)
Tg(ACTA1-cre/Esr1*)2Kesr mutation (2 available)

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

muscle

muscle phenotype ( J:288233 )

N	• tamoxifen-treated mice exhibit normal exercise capacity and muscle ex vivo contractile properties

nervous system

nervous system phenotype ( J:288233 )

N	• tamoxifen-treated mice exhibit normal motorneurons

Allelic Composition	Gt(ROSA)26Sor^{tm1.1(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)26Sor^{tm1.1(DUX4*)Plj} mutation (1 available); any Gt(ROSA)26Sor mutation (1058 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

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)

skeletal muscle necrosis ( J:256652 )

• necrosis and phagocytosis are observed at time of euthanasia (9 days post TMX)

dystrophic muscle ( J:256652 )

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)

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

Allelic Composition	Styxl2^tm1Nju/Styxl2^tm1Nju Tg(ACTA1-cre/Esr1*)2Kesr/0
Genetic Background	involves: C3H * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Styxl2^tm1Nju mutation (0 available); any Styxl2 mutation (62 available)
Tg(ACTA1-cre/Esr1*)2Kesr mutation (2 available)

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

muscle

muscle phenotype ( J:351096 )

N	• in vitro, gastrocnemius muscles isolated from tamoxifen-treated adult mice generate normal twitch and tetanic force relative to control muscles, suggesting normal contractile function with no change in the maintenance of existing sarcomeres in adult skeletal muscles

Allelic Composition	Fam210a^{tm1c(EUCOMM)Wtsi}/Fam210a^{tm1c(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:
Fam210a^{tm1c(EUCOMM)Wtsi} mutation (1 available); any Fam210a mutation (19 available)
Tg(ACTA1-cre/Esr1*)2Kesr mutation (2 available)

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

skeleton

increased osteoclast cell number ( J:261817 )

• in tamoxifen-treated mice

decreased bone mineral density ( J:261817 )

• in tamoxifen-treated male mice

behavior/neurological

decreased grip strength ( J:261817 )

• in tamoxifen-treated mice

limbs/digits/tail

abnormal limb morphology ( J:261817 )

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

growth/size/body

growth/size/body region phenotype ( J:261817 )

N	• tamoxifen-treated mice exhibit normal body weight

immune system

increased osteoclast cell number ( J:261817 )

• in tamoxifen-treated mice

hematopoietic system

increased osteoclast cell number ( J:261817 )

• in tamoxifen-treated mice

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