Phenotypes Associated with This Genotype

Genotype
MGI:6120564

• Allelic Composition: Gt(ROSA)26Sor^{tm1.1(DUX4*)Plj}/Gt(ROSA)26Sor⁺; Tg(ACTA1-cre/Esr1*)2Kesr/0
• Genetic Background: involves: C3H * C57BL/6

• ♀: 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)

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)

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