Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1btm1Kml mutation
(0 available);
any
Bmpr1b mutation
(37 available)
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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
limbs/digits/tail
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• the proximal and middle phalanges are reduced
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• the proximal and middle phalanges are fused
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• initial formation of the digital rays occurs normally, but proliferation of prechondrogenic cells and chondrocyte differentiation in the phalangeal region are reduced
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skeleton
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• the proximal and middle phalanges are reduced
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• the proximal and middle phalanges are fused
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• chondrogenesis is impaired in the region of the proximal and middle phalanges
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• appendicular joint defects
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nervous system
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• defect in axon guidance of ventral retinal ganglion cells into the optic nerve head, showing severely aberrantly growing retinal ganglion cell axons that do not enter the optic nerve head but make abrupt turns
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• defect in axon pathfinding of the ventrally located retinal ganglion cells
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vision/eye
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• about a 3-fold increase in retinal apoptosis at P7, with apoptotic cells concentrated in the inner nuclear layer
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• defect in axon pathfinding of the ventrally located retinal ganglion cells
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cellular
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• about a 3-fold increase in retinal apoptosis at P7, with apoptotic cells concentrated in the inner nuclear layer
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• defect in axon guidance of ventral retinal ganglion cells into the optic nerve head, showing severely aberrantly growing retinal ganglion cell axons that do not enter the optic nerve head but make abrupt turns
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1btm1Kml mutation
(0 available);
any
Bmpr1b mutation
(37 available)
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endocrine/exocrine glands
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• underdeveloped or absent endometrial glands in 89% of mice
• wide variation in endometrial gland development ranging from a failure of gland formation to inability to develop past a simple epithelium
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• failure of cumulus cell expansion preventing fertilization in vivo
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reproductive system
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• underdeveloped or absent endometrial glands in 89% of mice
• wide variation in endometrial gland development ranging from a failure of gland formation to inability to develop past a simple epithelium
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• failure of cumulus cell expansion preventing fertilization in vivo
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• the endometrial lining fails to thicken
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• impaired pseudopregnancy response
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• prolonged di-oestrus phase in 33% of females
• ovulation does occur
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• 2 litters, one of 1 pup and the other of 5 pups, were generated by over 30 matings of females and wild-type males over a period of 60 weeks
• oocytes could be fertilized in vitro
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limbs/digits/tail
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• 28% of adults sustain frequent elbow joint dislocations
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• several carpal bones are affected
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• by E13.5, but not earlier, the phalanges exhibit decreased cell density and defective proximal phalanx formation
• percentage of proliferating cells is reduced by 33% in the region of the presumptive phalanges at E12.5 and by E13.5, a 62% reduction is seen
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• the proximal and middle phalanges are reduced
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• the proximal and middle phalanges are fused
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• defects are seen in the calcaneus, in which there is an overall reduction in length and size of the ossification center
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• initial formation of the digital rays occurs normally, but proliferation of prechondrogenic cells and chondrocyte differentiation in the phalangeal region are reduced
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skeleton
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• several carpal bones are affected
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• by E13.5, but not earlier, the phalanges exhibit decreased cell density and defective proximal phalanx formation
• percentage of proliferating cells is reduced by 33% in the region of the presumptive phalanges at E12.5 and by E13.5, a 62% reduction is seen
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• the proximal and middle phalanges are reduced
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• the proximal and middle phalanges are fused
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• defects are seen in the calcaneus, in which there is an overall reduction in length and size of the ossification center
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• 33% of neonates exhibit a reduced 4th sternebra
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• chondrogenesis is impaired in the region of the proximal and middle phalanges
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• chondrocyte differentiation is defective in the phalanges
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• the proximal interphalangeal joint is absent in adults and the phalanges are replaced by a single rudimentary element, while the distal phalanges are unaffected
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• 28% of adults sustain frequent elbow joint dislocations
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vision/eye
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• many dorsal retinal ganglion cell axons form ectopic termination zones
• eye size and retinal layer morphology are normal
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nervous system
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• many dorsal retinal ganglion cell axons form ectopic termination zones
• eye size and retinal layer morphology are normal
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pigmentation
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• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen
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vision/eye
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• beginning at E11.25-E11.50 excess apoptosis is seen throughout the retina
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• 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
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• beginning at E11.25-E11.50 the retinal neuroectoderm is thinner
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• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen
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• eyes are small at E12.5 and absent at birth
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cellular
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• beginning at E11.25-E11.50 excess apoptosis is seen throughout the retina
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1atm2.1Bhr mutation
(1 available);
any
Bmpr1a mutation
(89 available)
Bmpr1btm1Kml mutation
(0 available);
any
Bmpr1b mutation
(37 available)
Tg(Col2a1-cre)1Bhr mutation
(3 available)
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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
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• lethality between E17.5 and birth, due to compression of internal organs and eventual heart failure
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growth/size/body
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• embryos develop short snouts
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• mutants are reduced in size starting at E13.5
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embryo
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• notochord at E14.5 is disorganized and is embedded within a layer of dense fibroblasts
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skeleton
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• vertebral column is completely absent at E14.5
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• chondrocytes undergo random and disorganized hypertrophy at P0
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• no vertebrae form by E13.5
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• 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
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• 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
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• the few cartilage condensations that do form are delayed in the prechondrocytic state and never form an organized growth plate
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• severe generalized chondrodysplasia
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• majority of skeletal elements that form through endochondral ossification are absent and the ones that form are rudimentary and malformed
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limbs/digits/tail
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• digits by E14.5 have fully formed pericondria but cells within the cores do not exhibit prechondrocyte characteristics
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• embryos develop short limbs
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• embryos develop short tails
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craniofacial
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• embryos develop short snouts
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1btm1Kml mutation
(0 available);
any
Bmpr1b mutation
(37 available)
Gdf5bp-J mutation
(2 available);
any
Gdf5 mutation
(27 available)
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limbs/digits/tail
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• limbs of double homozygotes resemble those of single Gdf5bp-J homozygotes
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• fusion of the ulnar carpal and hamate bones
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• in the forelimbs, metacarpals I, II and V of newborns are reduced to a greater extent than in either single mutant
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• fusions/reductions of sternal and tarsal elements are seen
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skeleton
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• fusion of the ulnar carpal and hamate bones
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• in the forelimbs, metacarpals I, II and V of newborns are reduced to a greater extent than in either single mutant
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• fusions/reductions of sternal and tarsal elements are seen
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Allelic
Composition |
Bmpr1btm1Kml/Bmpr1b+
Gdf5bp-J/Gdf5+
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Genetic
Background |
involves: 129S/SvEv * A/J * C57BL/6J |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1btm1Kml mutation
(0 available);
any
Bmpr1b mutation
(37 available)
Gdf5bp-J mutation
(2 available);
any
Gdf5 mutation
(27 available)
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limbs/digits/tail
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• 100% of mutants show delayed ossification of the middle phalanx
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skeleton
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• 100% of mutants show delayed ossification of the middle phalanx
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• 100% of mutants show delayed ossification of the middle phalanx
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp7tm1Rob mutation
(2 available);
any
Bmp7 mutation
(37 available)
Bmpr1btm1Kml mutation
(0 available);
any
Bmpr1b mutation
(37 available)
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limbs/digits/tail
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• within the forelimb autopod, every element, except for the distal phalanx, is severely reduced or absent
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• the phalanges are severely reduced
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• the trochanter of the humerus is absent
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• the metacarpals are severely reduced
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skeleton
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• the phalanges are severely reduced
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• the trochanter of the humerus is absent
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• the metacarpals are severely reduced
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• width of the dorsal margin of the scapula is reduced
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Analysis Tools