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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bmpr1atm2.2Bhr
targeted mutation 2.2, Richard R Behringer
MGI:2181295
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Bmpr1atm2.2Bhr/Bmpr1atm2.2Bhr involves: 129S7/SvEvBrd MGI:2181329
cn2
Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr
Tg(Gdf5-cre-ALPP)1Kng/0
involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng MGI:3578783
cn3
Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr
Isl1tm1(cre)Sev/Isl1+
involves: 129S4/SvJae * 129S7/SvEvBrd MGI:3625139


Genotype
MGI:2181329
hm1
Allelic
Composition
Bmpr1atm2.2Bhr/Bmpr1atm2.2Bhr
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.2Bhr mutation (0 available); any Bmpr1a mutation (76 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging




Genotype
MGI:3578783
cn2
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr
Tg(Gdf5-cre-ALPP)1Kng/0
Genetic
Background
involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (76 available)
Bmpr1atm2.2Bhr mutation (0 available); any Bmpr1a mutation (76 available)
Tg(Gdf5-cre-ALPP)1Kng mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Joint defects in Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr Tg(Gdf5-cre-ALPP)1Kng/0 mice

skeleton
• digit joints are normal at birth but cartilage is lost as the mutants age; however neutrophils are not seen in the joints
• deterioration similar to that in the foot is also seen in the knee
• at 7 weeks and 9 months, subchondral sclerosis is seen, especially in the epiphysis of the femur
• many joints, including those in the foot and the knee, showed a decrease in cartilage however cartilage was normal in non-articular regions
• cartilage formation is reduced and cells with a noncartilaginous appearance are seen in the fibrocartilaginous meniscus that sits between the femur and tibia
• hypertrophy of the synovial membrane is seen in some joints, particulary in the ankle region
• in severely affected joints the synovial membrane grows into the joint space and this is associated with articular cartilage loss
• synovial hypertophy decreases with age
• at some sites in the ankles the joints appear to be absent and bones that are normally separated are fused
• in all mutants the second distal tarsal was fused to the central tarsal bone
• E15.5 expression of early joint markers is decreased in the ankle suggesting the fusion of some of the ankle joints is a result of incomplete segmentation
• at 7 weeks and 9 months, the domed epiphysis of the tibia is flattened and depressed
• accelerated cartilage maturation is seen
• the range of motion of the digit joints is reduced

behavior/neurological
• the ability to grasp and remain suspended from a slender rod is significantly reduced

hearing/vestibular/ear
• the ears are shorter and often lay flatter against the head
• the ears are shorter than normal

limbs/digits/tail
• soft tissue syndactyly is seen involving the first and second digits that is more severe and more frequent in the forefeet compared to the hindfeet (incidence of 91% and 50%, respectively)
• decreased apoptosis is seen at E14.5 between the first and second digits and in the posterior margin of the fifth digit

immune system
• digit joints are normal at birth but cartilage is lost as the mutants age; however neutrophils are not seen in the joints
• deterioration similar to that in the foot is also seen in the knee

craniofacial
• the ears are shorter and often lay flatter against the head
• the ears are shorter than normal

growth/size/body
• the ears are shorter and often lay flatter against the head
• the ears are shorter than normal

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
osteoarthritis DOID:8398 J:97780




Genotype
MGI:3625139
cn3
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr
Isl1tm1(cre)Sev/Isl1+
Genetic
Background
involves: 129S4/SvJae * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (76 available)
Bmpr1atm2.2Bhr mutation (0 available); any Bmpr1a mutation (76 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants were recovered at mendelian frequencies at E10.5
• began to be lost by E11.5 and no live mutant were recovered at E14.5

cardiovascular system
• abnormalities of outflow tract and right ventricle was evident by E8.5
• at E13.5 severe abnormalities of outflow tract formation with evident of persistent truncus arteriosus and underdeveloped valves
• proliferation of ventricular myocardium in the free wall and septum was also decreased in mutants relative to controls
• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum

muscle
• proliferation of ventricular myocardium in the free wall and septum was also decreased in mutants relative to controls
• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum

limbs/digits/tail
• at E10, hindlimb buds were smaller
• by E11.5 ectopic outgrowths were observed on the ventral surface of the limb bud
• by E13.5 hindlimb formation was severely abnormal

cellular
• proliferation of ventricular myocardium in the free wall and septum was also decreased in mutants relative to controls
• decreased apoptosis in outflow tract cushions and increased apoptosis atop the ventricular septum
• proliferation of developing hindlimb buds was severely decreased





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
08/09/2022
MGI 6.21
The Jackson Laboratory