About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Bmpr1atm2.1Bhr
targeted mutation 2.1, Richard R Behringer
MGI:2158390
Summary 23 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Baxtm1Sjk/Baxtm1Sjk
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Sftpc-cre)1Blh/0
involves: 129 * C57BL/6 * DBA/2 * ICR MGI:3811313
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/Bmpr1atm2.1Bhr
Krt14tm1.1(cre)Wbm/Krt14+
involves: 129P2/OlaHsd * 129S7/SvEvBrd MGI:5508225
cn4
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Ctnnb1tm1Mmt/Ctnnb1+
Krt14tm1.1(cre)Wbm/Krt14+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * 129X1/SvJ MGI:5508218
cn5
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Kdrtm1(cre)Sato/Kdr+
involves: 129S1/Sv * 129S7/SvEvBrd MGI:3687380
cn6
Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr
Isl1tm1(cre)Sev/Isl1+
involves: 129S4/SvJae * 129S7/SvEvBrd MGI:3625139
cn7
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Shhtm1(EGFP/cre)Cjt/?
involves: 129S7/SvEvBrd MGI:5305710
cn8
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Tg(Col1a1-cre/Esr1*)1Mis/0
involves: 129S7/SvEvBrd MGI:3829249
cn9
Amhr2tm3(cre)Bhr/Amhr2+
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
involves: 129S7/SvEvBrd * C57BL/6 MGI:3042225
cn10
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Tg(CAG-cre/Esr1*)5Amc/0
involves: 129S7/SvEvBrd * C57BL/6 * CBA MGI:6404152
cn11
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(CAG-cre/Esr1*)5Amc/0
involves: 129S7/SvEvBrd * C57BL/6 * CBA MGI:4941477
cn12
Bmpr1atm2.1Bhr/Bmpr1a+
Tg(Sftpc-cre)1Blh/0
involves: 129S7/SvEvBrd * C57BL/6 * DBA/2 MGI:3811322
cn13
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Sftpc-cre)1Blh/0
involves: 129S7/SvEvBrd * C57BL/6 * DBA/2 * ICR MGI:3811312
cn14
Bmpr1atm2.1Bhr/Bmpr1a+
Tg(Sftpc-cre)1Blh/0
involves: 129S7/SvEvBrd * C57BL/6 * DBA/2 * ICR MGI:3811314
cn15
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(GATA6-cre)#Jbeb/0
involves: 129S7/SvEvBrd * C57BL/6 * FVB MGI:3663711
cn16
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Tg(Col2a1-cre)1Bhr/?
involves: 129S7/SvEvBrd * C57BL/6 * SJL MGI:3785772
cn17
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Cga-cre)3Sac/0
involves: 129S7/SvEvBrd * C57BL/6 * SJL MGI:3819176
cn18
Bmpr1atm2.1Bhr/Bmpr1a+
Tg(Pou3f4-cre)32Cren/0
involves: 129S7/SvEvBrd * CD-1 MGI:2181351
cn19
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Pou3f4-cre)32Cren/0
involves: 129S7/SvEvBrd * CD-1 MGI:2181350
cn20
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1btm1Kml
Tg(Six3-cre)69Frty/0
involves: 129S/SvEv MGI:3574977
cn21
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1b+
Tg(Six3-cre)69Frty/0
involves: 129S/SvEv MGI:3574976
cn22
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1btm1Kml
Tg(Col2a1-cre)1Bhr/?
involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * SJL MGI:3785771
cn23
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Six3-cre)69Frty/0
Not Specified MGI:3574975


Genotype
MGI:3811313
cn1
Allelic
Composition
Baxtm1Sjk/Baxtm1Sjk
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Sftpc-cre)1Blh/0
Genetic
Background
involves: 129 * C57BL/6 * DBA/2 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Baxtm1Sjk mutation (1 available); any Bax mutation (24 available)
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Sftpc-cre)1Blh mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• while increased apoptosis of epithelial cells is rescued, mice exhibit abnormal branching morphogenesis




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 (59 available)
Bmpr1atm2.2Bhr mutation (0 available); any Bmpr1a mutation (59 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:5508225
cn3
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Krt14tm1.1(cre)Wbm/Krt14+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Krt14tm1.1(cre)Wbm mutation (0 available); any Krt14 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
neoplasm
N
• mice do not develop salivary gland squamous cell carcinoma




Genotype
MGI:5508218
cn4
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Ctnnb1tm1Mmt/Ctnnb1+
Krt14tm1.1(cre)Wbm/Krt14+
Genetic
Background
involves: 129P2/OlaHsd * 129S7/SvEvBrd * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Ctnnb1tm1Mmt mutation (0 available); any Ctnnb1 mutation (24 available)
Krt14tm1.1(cre)Wbm mutation (0 available); any Krt14 mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• rapidly develop aggressive tumors in the salivary glands
• tumors contain transplantable and hyperproliferative tumor propagating cells (CD24+CD29+)
• treatment of cultured CD24+CD29+ tumor cells with the canonical Wnt inhibitor ICG-001 blocks proliferation of these cells
• CD24+CD29+ tumor propagating cells from salivary gland tumors exhibit unrestricted self-renewal in salisphere culture

digestive/alimentary system
• rapidly develop aggressive tumors in the salivary glands
• tumors contain transplantable and hyperproliferative tumor propagating cells (CD24+CD29+)
• treatment of cultured CD24+CD29+ tumor cells with the canonical Wnt inhibitor ICG-001 blocks proliferation of these cells
• CD24+CD29+ tumor propagating cells from salivary gland tumors exhibit unrestricted self-renewal in salisphere culture

mortality/aging
• mutants succumb to tumors rapidly, dying between P75 and P90

neoplasm
• rapidly develop aggressive tumors in the salivary glands
• tumors contain transplantable and hyperproliferative tumor propagating cells (CD24+CD29+)
• treatment of cultured CD24+CD29+ tumor cells with the canonical Wnt inhibitor ICG-001 blocks proliferation of these cells
• CD24+CD29+ tumor propagating cells from salivary gland tumors exhibit unrestricted self-renewal in salisphere culture
• tumors arise from the submandibular salivary glands and are classified as salivary gland squamous cell carcinoma

integument
• excessive supernumerary hair follicles in the skin

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
salivary gland carcinoma DOID:0050904 J:199091




Genotype
MGI:3687380
cn5
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Kdrtm1(cre)Sato/Kdr+
Genetic
Background
involves: 129S1/Sv * 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Kdrtm1(cre)Sato mutation (1 available); any Kdr mutation (45 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

growth/size/body

embryo
• E10.5 yolk sacs show only the primary vascular plexus of poorly developed vascular channels instead of large vessels with extensive branching and well-developed capillary network
• fail to develop beyond E11.5 as indicated by the small size and failure to form digits at E12.5
• 21 of 69 exhibit pale yolk sacs at E10.5 and by E11.5, all mutants have pale yolk sacs

cardiovascular system
• exhibit defective vessel development
• often show abnormal branching in the trunk
• E10.5 yolk sacs show only the primary vascular plexus of poorly developed vascular channels instead of large vessels with extensive branching and well-developed capillary network
• exhibit fewer smooth muscle cell numbers around the dorsal aortas and those that are present do not make close contacts with adjacent endothelial cells
• often show dilated vessels in the brain
• at E10.5, the atrioventricular canal endocardial cushion is absent, however the development of the outflow tract cushion appears normal
• cavity between the pericardial sac and the heart is distended
• all mutants exhibit hemorrhage throughout the trunk region of the embryo at E11.5
• embryos surviving to E11.5 are morphologically normal at E10.5 but subsequently succumb to death displaying abdominal hemorrhage

muscle
• exhibit fewer smooth muscle cell numbers around the dorsal aortas and those that are present do not make close contacts with adjacent endothelial cells

hematopoietic system
N
• exhibit normal embryonic and definitive hematopoiesis

homeostasis/metabolism
• cavity between the pericardial sac and the heart is distended

integument
• at E12.5, embryos are totally pale, although some of them still have red fluid within the amnion




Genotype
MGI:3625139
cn6
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 (59 available)
Bmpr1atm2.2Bhr mutation (0 available); any Bmpr1a mutation (59 available)
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (21 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




Genotype
MGI:5305710
cn7
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Shhtm1(EGFP/cre)Cjt/?
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Shhtm1(EGFP/cre)Cjt mutation (1 available); any Shh mutation (27 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most homozygotes die in utero or at birth
• some survival to 9 days of age




Genotype
MGI:3829249
cn8
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Tg(Col1a1-cre/Esr1*)1Mis/0
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Col1a1-cre/Esr1*)1Mis mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• at E18.5, the parietal bone of tamoxifen-treated mice is thicker than in wild-type mice
• bony areas of tamoxifen-treated mice are loose, discontinuous and disorganized compared to in wild-type mice
• as determined by marker expression, tamoxifen-treated mice exhibit reduced osteoclastogenesis compared to wild-type mice
• in tamoxifen-treated mice
• at E18.5, tamoxifen-treated mice exhibit a 30% increase in bone volume to total tissue volume in the calvariae and femora compared to wild-type mice
• tamoxifen-treated mice exhibit increased bone mass in femora and calvariae compared to in wild-type mice
• tamoxifen-treated mice exhibit reduced osteoclast activity compared to in wild-type mice
• bone mineralization of calvariae from mice treated with tamoxifen is increased and bone continuity is disrupted compared to in wild-type mice
• as determined by expression of markers, tamoxifen-treated mice exhibit a modest reduction in E16.5 bone formation compared to in wild-type mice

immune system
• as determined by marker expression, tamoxifen-treated mice exhibit reduced osteoclastogenesis compared to wild-type mice
• in tamoxifen-treated mice
• tamoxifen-treated mice exhibit reduced osteoclast activity compared to in wild-type mice

hematopoietic system
• as determined by marker expression, tamoxifen-treated mice exhibit reduced osteoclastogenesis compared to wild-type mice
• in tamoxifen-treated mice
• tamoxifen-treated mice exhibit reduced osteoclast activity compared to in wild-type mice

craniofacial
• at E18.5, the parietal bone of tamoxifen-treated mice is thicker than in wild-type mice

cellular
• as determined by marker expression, tamoxifen-treated mice exhibit reduced osteoclastogenesis compared to wild-type mice




Genotype
MGI:3042225
cn9
Allelic
Composition
Amhr2tm3(cre)Bhr/Amhr2+
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amhr2tm3(cre)Bhr mutation (1 available); any Amhr2 mutation (23 available)
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• in addition to a normal male reproductive tract, XY mice developed uteri and oviducts




Genotype
MGI:6404152
cn10
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(CAG-cre/Esr1*)5Amc mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• antral and pyloric hyperplasia and distended antral-pyloric region in tamoxifen-treated mice
• hyperplasia in tamoxifen-treated mice
• foveolar hyperplasia in tamoxifen-treated mice
• in tamoxifen-treated mice
• acute and chronic in antral polyps of tamoxifen-treated mice

endocrine/exocrine glands
• antral and pyloric hyperplasia and distended antral-pyloric region in tamoxifen-treated mice
• hyperplasia in tamoxifen-treated mice
• hyperplastic in tamoxifen-treated mice

immune system
• acute and chronic in antral polyps of tamoxifen-treated mice

integument
• in tamoxifen-treated mice




Genotype
MGI:4941477
cn11
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(CAG-cre/Esr1*)5Amc/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(CAG-cre/Esr1*)5Amc mutation (8 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• tamoxifen-treated mice exhibit normal sclerotome formation




Genotype
MGI:3811322
cn12
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1a+
Tg(Sftpc-cre)1Blh/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Sftpc-cre)1Blh mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
N
• Background Sensitivity: unlike on an ICR mixed background, all mice exhibit normal lung morphology




Genotype
MGI:3811312
cn13
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Sftpc-cre)1Blh/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * DBA/2 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Sftpc-cre)1Blh mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• all mice die or are euthanized within 2 days of birth due to severe respiratory distress

respiratory system
N
• despite defects in distal portions of the lungs, proximal bronchi and bronchioles appear normal
• at E16.5, the distal regions of all four lobes are abnormal
• lungs are highly abnormal with large, fluid-filled (emphysematous) sacs
• however, lungs are normal at E12.5
• at E16.5, the number of more distal branches is reduced and branches are smaller than in wild-type mice
• epithelial cells in the periphery of the lung have a more rounded morphology than in wild-type mice
• epithelial cells cultured in a mesenchyme-free system fail to undergo secondary branching, develop fewer or no buds and exhibit a collapsed and folded morphology compared to wild-type cultures
• fewer than normal as determined by surfactant C expression
• despite defects in distal portions of the lungs, proximal bronchi and bronchioles appear normal




Genotype
MGI:3811314
cn14
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1a+
Tg(Sftpc-cre)1Blh/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * DBA/2 * ICR
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Sftpc-cre)1Blh mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• Background Sensitivity: 46% of mice exhibit lung abnormalities between E16.5, and birth unlike when the transgene is carried on a C57BL/6 background




Genotype
MGI:3663711
cn15
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(GATA6-cre)#Jbeb/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(GATA6-cre)#Jbeb mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• 45% of 3-month old mutants show longer mitral septal leaflets
• exhibit a premature disappearance of the myocardial layer in the tricuspid mural leaflet (present at E14.5 but absent at E15.5)
• the posterior annulus fibrosis is displaced downward into the right ventricular cavity in one of six mutants
• 36% of 3-month old mutants show longer tricuspid mural leaflets than control valves
• 3-month old mutants show significantly decreased left ventricular (LV) ejection fraction and increased LV-end-systolic dimension and LV-end-diastolic dimension
• show a 2-fold increase in left atrial pressure consistent with mitral insufficiency
• isolated Langendorff perfused mutant hearts show a delta wave with abnormal surface ECG
• hearts with abnormal surface ECG show a base-to-apex activation pattern with evidence of a posterior paraseptal bypass tract
• the annulus fibrosus is disrupted resulting in ventricular preexcitation
• 6 of 33 mutants, aged between 2 and 6 months, show absence of PR interval

muscle
• 3-month old mutants show significantly decreased left ventricular (LV) ejection fraction and increased LV-end-systolic dimension and LV-end-diastolic dimension




Genotype
MGI:3785772
cn16
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Tg(Col2a1-cre)1Bhr/?
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal abnormalities in Bmpr1btm1Kml/Bmpr1btm1Kml, Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr Tg(Col2a1-cre)1Bhr/?, and Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr Bmpr1btm1Kml/Bmpr1btm1Kml Tg(Col2a1-cre)1Bhr/? mice

mortality/aging

skeleton
• rib cage is flattened
• rib cage is smaller and flattened
• generalized chondrodysplasia

respiratory system
• respiratory distress due to smaller and flattened rib cage




Genotype
MGI:3819176
cn17
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Cga-cre)3Sac/0
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Cga-cre)3Sac mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• occurs at E12.5 likely due to heart defects

embryo
• embryos are smaller than wild-type littermates at prior to lethality

growth/size/body
• embryos are smaller than wild-type littermates at prior to lethality

endocrine/exocrine glands
• at E10.5 pouch is thin and underdeveloped compared to wild-type littermates

nervous system
• at E10.5 pouch is thin and underdeveloped compared to wild-type littermates

cardiovascular system
• embryos display heart defects




Genotype
MGI:2181351
cn18
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1a+
Tg(Pou3f4-cre)32Cren/0
Genetic
Background
involves: 129S7/SvEvBrd * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Pou3f4-cre)32Cren mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:2181350
cn19
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Pou3f4-cre)32Cren/0
Genetic
Background
involves: 129S7/SvEvBrd * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Pou3f4-cre)32Cren mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
limbs/digits/tail
• ectopic distal phalanges are sometimes found
• although reduced digits is typical, polydactyly sometimes occurs
• polysyndactyly is common
• if hindlimbs are present then they are highly malformed
• loss of ventral structures of hindlimbs
• in many but not all animals




Genotype
MGI:3574977
cn20
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1btm1Kml
Tg(Six3-cre)69Frty/0
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1btm1Kml mutation (0 available); any Bmpr1b mutation (3 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
pigmentation
• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen

vision/eye
• beginning at E11.25-E11.50 excess apoptosis is seen throughout the retina
• around E11.5 a drastic reduction in cell proliferation is seen in the retina
• Atoh7 expression is not initiated at E11.5 suggesting a failure to initiate retinal neurogenesis
• beginning at E11.25-E11.50 the retinal neuroectoderm is thinner
• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen
• eyes are small at E12.5 and absent at birth

cellular
• beginning at E11.25-E11.50 excess apoptosis is seen throughout the retina




Genotype
MGI:3574976
cn21
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1b+
Tg(Six3-cre)69Frty/0
Genetic
Background
involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1btm1Kml mutation (0 available); any Bmpr1b mutation (3 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• many dorsal retinal ganglion cell axons form ectopic termination zones
• eye size and retinal layer morphology are normal

nervous system
• many dorsal retinal ganglion cell axons form ectopic termination zones
• eye size and retinal layer morphology are normal




Genotype
MGI:3785771
cn22
Allelic
Composition
Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr
Bmpr1btm1Kml/Bmpr1btm1Kml
Tg(Col2a1-cre)1Bhr/?
Genetic
Background
involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1btm1Kml mutation (0 available); any Bmpr1b mutation (3 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal abnormalities in Bmpr1btm1Kml/Bmpr1btm1Kml, Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr Tg(Col2a1-cre)1Bhr/?, and Bmpr1atm2.1Bhr/Bmpr1atm2.1Bhr Bmpr1btm1Kml/Bmpr1btm1Kml Tg(Col2a1-cre)1Bhr/? mice

mortality/aging
• lethality between E17.5 and birth, due to compression of internal organs and eventual heart failure

growth/size/body
• embryos develop short snouts
• mutants are reduced in size starting at E13.5

embryo
• notochord at E14.5 is disorganized and is embedded within a layer of dense fibroblasts

skeleton
• small radius
• vertebral column is completely absent at E14.5
• chondrocytes undergo random and disorganized hypertrophy at P0
• no vertebrae form by E13.5
• cartilage elements exhibit reduced rates of proliferation from E13.5 to E16.5 and increased cell apoptosis
• cartilage elements are severely disorganized and do not produce cartilage specific extracellular matrix
• chondrocyte differentiation is impaired, with appendicular and nasal cavity condensations remaining in a prechondrocytic state
• although cells in prechondrocytic condensations eventually differentiate, they do not undergo the organized differentiation program found in the growth plate
• the few cartilage condensations that do form are delayed in the prechondrocytic state and never form an organized growth plate
• severe generalized chondrodysplasia
• majority of skeletal elements that form through endochondral ossification are absent and the ones that form are rudimentary and malformed

limbs/digits/tail
• small radius
• digits by E14.5 have fully formed pericondria but cells within the cores do not exhibit prechondrocyte characteristics
• embryos develop short limbs
• embryos develop short tails

craniofacial
• embryos develop short snouts




Genotype
MGI:3574975
cn23
Allelic
Composition
Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(Six3-cre)69Frty/0
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Bmpr1atm2.1Bhr mutation (1 available); any Bmpr1a mutation (59 available)
Tg(Six3-cre)69Frty mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• no overt eye abnormalities are seen, the retinal layers and retinotectal projections are normal





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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
03/30/2021
MGI 6.16
The Jackson Laboratory