Phenotypes associated with this allele

• Allele Symbol: Acvr1^tm1Emsh
• Allele Name: targeted mutation 1, Eileen M Shore
• Allele ID: MGI:5471642
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Acvr1^tm1Emsh/Acvr1^+	C57BL/6-Acvr1^tm1Emsh	MGI:5471725
ht2	Acvr1^tm1Emsh/Acvr1^+	chimera involves: BALB/c * C57BL/6 * CD-1	MGI:5471728

Genotype
MGI:5471725

ht1

• Allelic Composition: Acvr1^tm1Emsh/Acvr1⁺
• Genetic Background: C57BL/6-Acvr1^tm1Emsh

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

mortality/aging

neonatal lethality, complete penetrance ( J:194134 )

• mice die within 24 hours of birth

Genotype
MGI:5471728

ht2

• Allelic Composition: Acvr1^tm1Emsh/Acvr1⁺
• Genetic Background: chimera involves: BALB/c * C57BL/6 * CD-1

skeleton

abnormal phalanx morphology ( J:194134 )

• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx

broad femur neck ( J:194134 )

• short broad femoral neck

short femur neck ( J:194134 )

• short broad femoral neck

short metatarsal bones ( J:194134 )

• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx

increased osteochondroma incidence ( J:194134 )

• commonly in the proximal medial tibias, but also in the humerus and femur

abnormal cervical vertebrae morphology ( J:194134 )

• some mice exhibit fusion of the posterior facet joints of the subaxial cervical vertebrae

abnormal joint morphology ( J:194134 )

• malformation of costovertebral joints and ribs

• early degenerative joint disease

abnormal costovertebral joint morphology ( J:194134 )

• malformation of costovertebral joints

vertebral fusion ( J:194134 )

• fusion of thoracic and lumbar vertebrae

ectopic bone ( J:194134 )

• in skeletal muscles

• cardiotoxin-induced skeletal muscle injury triggers heterotropic ossification

• extraskeletal bone formation occurs by an endochondral process

abnormal joint mobility ( J:194134 )

• ankylosed joints at 6 to 8 weeks

cellular

increased apoptosis ( J:194134 )

• in degenerating muscle and connective tissue with abundant immune cell infiltration prior to ossified lesion formation

homeostasis/metabolism

edema ( J:194134 )

• swelling in soft tissue

immune system

increased inflammatory response ( J:194134 )

• inflammatory response followed by fibroproliferation in degenerating muscle and connective tissue

limbs/digits/tail

abnormal phalanx morphology ( J:194134 )

• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx

broad femur neck ( J:194134 )

• short broad femoral neck

short femur neck ( J:194134 )

• short broad femoral neck

short metatarsal bones ( J:194134 )

• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx

muscle

skeletal muscle degeneration ( J:194134 )

• due to apoptosis and possibly some necrosis

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:194134 )

• at 6 to 8 weeks, most mice exhibit severe physical disability with limited mobility and difficulty in movement

neoplasm

increased osteochondroma incidence ( J:194134 )

• commonly in the proximal medial tibias, but also in the humerus and femur

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
fibrodysplasia ossificans progressiva		DOID:13374	OMIM:135100	J:194134