Phenotypes Associated with This Genotype

Genotype
MGI:7278772

• Allelic Composition: Acvr1^tm1Glh/Acvr1⁺; Gt(ROSA)26Sor^{tm1.2(CAG-EGFP)Glh}/Gt(ROSA)26Sor⁺; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * FVB/N * SJL

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

homeostasis/metabolism

abnormal response to injury ( J:257905 )

• pinch injury of adult hindlimb skeletal muscle results in heterotopic ossification in 100% of mice; heterotopic skeletal lesions show that lesional tissue is typically embedded in muscle and associated soft tissues, although close apposition or fusion with limb skeletal elements is sometimes seen

• cardiotoxin-mediated injury of skeletal muscle also results in heterotopic ossification, except that this less localized injury stimulus sometimes results in tendon/ligament heterotopic ossification

• unlike in controls, regenerated muscle fibers are rarely seen in areas of lesion formation at 6 days post-injury, and instead injured muscle contains large numbers of chondrocytes and accumulations of fibroblastic cells

• by 14 days post-injury, most cartilage is replaced by bone instead of regenerated muscle fibers as in controls

• activin A injection lowers the threshold for injury-induced heterotopic ossification

• treatment with anti-activin A mAb effectively blocks injury-induced heterotopic ossification

skeleton

increased bone ossification ( J:257905 )

• spontaneous heterotopic ossification is seen as early as 5.5 months of age, and by 1 year of age, 12 of 15 mice develop spontaneous heterotopic ossification

• fibro/adipogenic progenitors represent the predominant cell-of-origin for both heterotopic cartilage and bone

• pinch injury or cardiotoxin-mediated injury of adult hindlimb skeletal muscle results in heterotopic ossification in 100% of mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
fibrodysplasia ossificans progressiva		DOID:13374	OMIM:135100	J:257905