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

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