Phenotypes associated with this allele
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
|
|
|
mortality/aging
|
|
• embryos normal at E5.5, absent after E9.5
• beginning to degenerate at E7.5
|
embryo
|
|
• embryos are half of normal size at E7.0
|
|
|
• embryonic regions are approximately half of normal size at E7.0
|
|
|
• at E7.0, some of the epiblast cells in the thickened region show pyknotic nuclei, suggesting cell death
|
|
|
• proliferative ability of epiblast cells is already decreased by E6.5
|
|
|
• at E7.0, the epiblast is thickened with multiple layers of cells, particularly in the distal portion
|
|
|
• no mesoderm at E7.0 and E7.5
|
|
|
• no primitive streak at E7.0
|
|
|
• the boundary between the embryonic and extraembryonic regions is indistinct
|
|
|
• thinner visceral endoderm at E7.0
|
growth/size/body
|
|
• embryos are half of normal size at E7.0
|
cellular
|
|
• at E7.0, some of the epiblast cells in the thickened region show pyknotic nuclei, suggesting cell death
|
|
|
• proliferative ability of epiblast cells is already decreased by E6.5
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
|
|
|
mortality/aging
|
|
• embryos normal at E5.5, absent after E9.5
• beginning to degenerate at E7.5
|
embryo
|
|
• embryos are half of normal size at E7.0
|
|
|
• embryonic regions are approximately half of normal size at E7.0
|
|
|
• at E7.0, some of the epiblast cells in the thickened region show pyknotic nuclei, suggesting cell death
|
|
|
• proliferative ability of epiblast cells is already decreased by E6.5
|
|
|
• at E7.0, the epiblast is thickened with multiple layers of cells, particularly in the distal portion
|
|
|
• no mesoderm at E7.0 and E7.5
|
|
|
• no primitive streak at E7.0
|
|
|
• the boundary between embryonic and extraembryonic regions is indistinct
|
growth/size/body
|
|
• embryos are half of normal size at E7.0
|
cellular
|
|
• at E7.0, some of the epiblast cells in the thickened region show pyknotic nuclei, suggesting cell death
|
|
|
• proliferative ability of epiblast cells is already decreased by E6.5
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
|
|
|
mortality/aging
|
|
• embryos normal at E5.5, absent after E9.5
• beginning to degenerate at E7.5
|
embryo
|
|
• embryos are half of normal size at E7.0
|
|
|
• embryonic regions are approximately half of normal size at E7.0
|
|
|
• at E7.0, some of the epiblast cells in the thickened region show pyknotic nuclei, suggesting cell death
|
|
|
• proliferative ability of epiblast cells is already decreased by E6.5
|
|
|
• at E7.0, the epiblast is thickened with multiple layers of cells, particularly in the distal portion
|
|
|
• no mesoderm at E7.0 and E7.5
|
|
|
• no primitive streak at E7.0
|
|
|
• the boundary between the embryonic and extraembryonic regions is indistinct
|
|
|
• thinner visceral endoderm at E7.0
|
growth/size/body
|
|
• embryos are half of normal size at E7.0
|
cellular
|
|
• at E7.0, some of the epiblast cells in the thickened region show pyknotic nuclei, suggesting cell death
|
|
|
• proliferative ability of epiblast cells is already decreased by E6.5
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
|
|
|
mortality/aging
|
|
• embryos normal at E5.5, absent after E9.5
• beginning to degenerate at E7.5
|
embryo
|
|
• embryos are half of normal size at E7.0
|
|
|
• embryonic regions are approximately half of normal size at E7.0
|
|
|
• at E7.0, some of the epiblast cells in the thickened region show pyknotic nuclei, suggesting cell death
|
|
|
• proliferative ability of epiblast cells is already decreased by E6.5
|
|
|
• at E7.0, the epiblast is thickened with multiple layers of cells, particularly in the distal portion
|
|
|
• no mesoderm at E7.0 and E7.5
|
|
|
• no primitive streak at E7.0
|
|
|
• the boundary between the embryonic and extraembryonic regions is indistinct
|
|
|
• thinner visceral endoderm at E7.0
|
growth/size/body
|
|
• embryos are half of normal size at E7.0
|
cellular
|
|
• at E7.0, some of the epiblast cells in the thickened region show pyknotic nuclei, suggesting cell death
|
|
|
• proliferative ability of epiblast cells is already decreased by E6.5
|
Allelic
Composition |
Bmpr1atm1Bhr/Bmpr1a+
|
|
Genetic
Background |
involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
|
|
|
embryo
|
|
• neural tube deformities are seen in 1 of 11 mice
|
limbs/digits/tail
|
|
• tail deformities are seen in 1 of 11 mice
|
nervous system
|
|
• neural tube deformities are seen in 1 of 11 mice
|
respiratory system
|
|
• while increased apoptosis of epithelial cells is rescued, mice exhibit abnormal branching morphogenesis
|
reproductive system
|
|
• in addition to a normal male reproductive tract, XY mice developed uteri and oviducts
|
skeleton
|
N |
• tamoxifen-treated mice exhibit normal sclerotome formation
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Bmpr1atm2Bhr mutation
(0 available);
any
Bmpr1a mutation
(89 available)
Tg(Pou3f4-cre)32Cren mutation
(0 available)
|
|
|
mortality/aging
integument
|
|
• lacked external hair in mid ventrum
|
|
|
• shafts usually fail to form in follicles
|
|
|
• misshapen and expanded dermal papillae
|
|
|
• misangled
• not as deep into the dermis
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Bmpr1atm2.1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Tg(Sftpc-cre)1Blh mutation
(0 available)
|
|
|
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
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Bmpr1atm2.1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Tg(GATA6-cre)#Jbeb mutation
(0 available)
|
|
|
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
|
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
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Bmpr1atm2.1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Tg(Pou3f4-cre)32Cren mutation
(0 available)
|
|
|
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
|
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
|
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
|
vision/eye
|
N |
• no overt eye abnormalities are seen, the retinal layers and retinotectal projections are normal
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Col2a1tm1.1Ksec mutation
(0 available);
any
Col2a1 mutation
(68 available)
|
|
|
embryo
|
|
• neural tube deformities are seen in 2 of 15 mice
|
limbs/digits/tail
|
|
• tail deformities are seen in 2 of 15 mice
|
vision/eye
nervous system
|
|
• neural tube deformities are seen in 2 of 15 mice
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Col2a1tm1.1Ksec mutation
(0 available);
any
Col2a1 mutation
(68 available)
|
|
|
mortality/aging
|
|
• underrepresented at birth and in the embryonic stages
|
craniofacial
|
|
• midface hypoplasia is seen in 1 of 1 mice
|
vision/eye
growth/size/body
|
|
• midface hypoplasia is seen in 1 of 1 mice
|
Analysis Tools