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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Acvr1tm1Emsh
targeted mutation 1, Eileen M Shore
MGI:5471642
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Acvr1tm1Emsh/Acvr1+ C57BL/6-Acvr1tm1Emsh MGI:5471725
ht2
Acvr1tm1Emsh/Acvr1+ chimera involves: BALB/c * C57BL/6 * CD-1 MGI:5471728


Genotype
MGI:5471725
ht1
Allelic
Composition
Acvr1tm1Emsh/Acvr1+
Genetic
Background
C57BL/6-Acvr1tm1Emsh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1tm1Emsh mutation (0 available); any Acvr1 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 24 hours of birth




Genotype
MGI:5471728
ht2
Allelic
Composition
Acvr1tm1Emsh/Acvr1+
Genetic
Background
chimera involves: BALB/c * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1tm1Emsh mutation (0 available); any Acvr1 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
• short broad femoral neck
• short broad femoral neck
• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
• commonly in the proximal medial tibias, but also in the humerus and femur
• some mice exhibit fusion of the posterior facet joints of the subaxial cervical vertebrae
• malformation of costovertebral joints and ribs
• early degenerative joint disease
• malformation of costovertebral joints
• fusion of thoracic and lumbar vertebrae
• in skeletal muscles
• cardiotoxin-induced skeletal muscle injury triggers heterotropic ossification
• extraskeletal bone formation occurs by an endochondral process
• ankylosed joints at 6 to 8 weeks

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

homeostasis/metabolism
• swelling in soft tissue

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

limbs/digits/tail
• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx
• short broad femoral neck
• short broad femoral neck
• 13 of 27 mice exhibit shortened first metatarsal with a single or delta-shaped proximal phalanx

muscle
• due to apoptosis and possibly some necrosis

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

neoplasm
• 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





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory