All Phenotypes Bmpr1b<tm1Kml> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Bmpr1b^tm1Kml
targeted mutation 1, Karen M Lyons
MGI:2158497

Summary

8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bmpr1b^tm1Kml/Bmpr1b^tm1Kml	involves: 129S/SvEv	MGI:2662412
hm2	Bmpr1b^tm1Kml/Bmpr1b^tm1Kml	involves: 129S/SvEv * C57BL/6J	MGI:3583282
cn3	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b⁺ Tg(Six3-cre)69Frty/0	involves: 129S/SvEv	MGI:3574976
cn4	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Tg(Six3-cre)69Frty/0	involves: 129S/SvEv	MGI:3574977
cn5	Bmpr1a^tm2.1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Tg(Col2a1-cre)1Bhr/?	involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * SJL	MGI:3785771
cx6	Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Gdf5^bp-J/Gdf5^bp-J	involves: 129S/SvEv * A/J * C57BL/6J	MGI:3789181
cx7	Bmpr1b^tm1Kml/Bmpr1b⁺ Gdf5^bp-J/Gdf5⁺	involves: 129S/SvEv * A/J * C57BL/6J	MGI:3789180
cx8	Bmp7^tm1Rob/Bmp7^tm1Rob Bmpr1b^tm1Kml/Bmpr1b^tm1Kml	involves: 129S/SvEv * C57BL/6J	MGI:3789182

Allelic Composition	Bmpr1b^tm1Kml/Bmpr1b^tm1Kml
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1b^tm1Kml mutation (0 available); any Bmpr1b mutation (40 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Skeletal abnormalities in Bmpr1b^tm1Kml/Bmpr1b^tm1Kml, Bmpr1a^tm2.1Bhr/Bmpr1a^tm2.1Bhr Tg(Col2a1-cre)1Bhr/?, and Bmpr1a^tm2.1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Tg(Col2a1-cre)1Bhr/? mice

limbs/digits/tail

abnormal phalanx morphology ( J:59282 , J:97410 )

brachyphalangia ( J:59282 )

• the proximal and middle phalanges are reduced

fused phalanges ( J:59282 )

• the proximal and middle phalanges are fused

brachydactyly ( J:59282 )

abnormal digit development ( J:59282 )

• initial formation of the digital rays occurs normally, but proliferation of prechondrogenic cells and chondrocyte differentiation in the phalangeal region are reduced

skeleton

abnormal phalanx morphology ( J:59282 , J:97410 )

brachyphalangia ( J:59282 )

• the proximal and middle phalanges are reduced

fused phalanges ( J:59282 )

• the proximal and middle phalanges are fused

abnormal cartilage development ( J:59282 )

• chondrogenesis is impaired in the region of the proximal and middle phalanges

abnormal joint morphology ( J:97410 )

• appendicular joint defects

nervous system

abnormal axon guidance ( J:82686 )

• 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

abnormal retina ganglion cell morphology ( J:82686 )

• defect in axon pathfinding of the ventrally located retinal ganglion cells

vision/eye

increased retina apoptosis ( J:82686 )

• about a 3-fold increase in retinal apoptosis at P7, with apoptotic cells concentrated in the inner nuclear layer

abnormal retina ganglion cell morphology ( J:82686 )

• defect in axon pathfinding of the ventrally located retinal ganglion cells

cellular

increased retina apoptosis ( J:82686 )

• about a 3-fold increase in retinal apoptosis at P7, with apoptotic cells concentrated in the inner nuclear layer

abnormal axon guidance ( J:82686 )

Allelic Composition	Bmpr1b^tm1Kml/Bmpr1b^tm1Kml
Genetic Background	involves: 129S/SvEv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1b^tm1Kml mutation (0 available); any Bmpr1b mutation (40 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

endocrine/exocrine glands

abnormal endometrial gland development ( J:70260 )

• 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

absent endometrial glands ( J:70260 )

absent cumulus expansion ( J:70260 )

• failure of cumulus cell expansion preventing fertilization in vivo

reproductive system

abnormal endometrial gland development ( J:70260 )

• 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

absent endometrial glands ( J:70260 )

absent cumulus expansion ( J:70260 )

• failure of cumulus cell expansion preventing fertilization in vivo

thin endometrium ( J:70260 )

• the endometrial lining fails to thicken

abnormal reproductive system physiology ( J:70260 )

• impaired pseudopregnancy response

prolonged diestrus ( J:70260 )

• prolonged di-oestrus phase in 33% of females

• ovulation does occur

female infertility ( J:70260 )

• 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

limbs/digits/tail

brachydactyly ( J:59282 )

elbow dislocation ( J:59282 )

• 28% of adults sustain frequent elbow joint dislocations

abnormal limb bone morphology ( J:59282 )

abnormal carpal bone morphology ( J:59282 )

• several carpal bones are affected

abnormal phalanx morphology ( J:59282 )

• 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

brachyphalangia ( J:59282 )

• the proximal and middle phalanges are reduced

fused phalanges ( J:59282 )

• the proximal and middle phalanges are fused

abnormal calcaneum morphology ( J:59282 )

• defects are seen in the calcaneus, in which there is an overall reduction in length and size of the ossification center

short metacarpal bones ( J:59282 )

short metatarsal bones ( J:59282 )

abnormal digit development ( J:59282 )

• initial formation of the digital rays occurs normally, but proliferation of prechondrogenic cells and chondrocyte differentiation in the phalangeal region are reduced

skeleton

abnormal limb bone morphology ( J:59282 )

abnormal carpal bone morphology ( J:59282 )

• several carpal bones are affected

abnormal phalanx morphology ( J:59282 )

• 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

brachyphalangia ( J:59282 )

• the proximal and middle phalanges are reduced

fused phalanges ( J:59282 )

• the proximal and middle phalanges are fused

abnormal calcaneum morphology ( J:59282 )

• defects are seen in the calcaneus, in which there is an overall reduction in length and size of the ossification center

short metacarpal bones ( J:59282 )

short metatarsal bones ( J:59282 )

decreased sternebra size ( J:59282 )

• 33% of neonates exhibit a reduced 4th sternebra

abnormal cartilage development ( J:59282 )

• chondrogenesis is impaired in the region of the proximal and middle phalanges

abnormal chondrocyte differentiation ( J:59282 )

• chondrocyte differentiation is defective in the phalanges

abnormal joint morphology ( J:59282 )

• the proximal interphalangeal joint is absent in adults and the phalanges are replaced by a single rudimentary element, while the distal phalanges are unaffected

elbow dislocation ( J:59282 )

• 28% of adults sustain frequent elbow joint dislocations

Allelic Composition	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b⁺ Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1a^tm1Bhr mutation (1 available); any Bmpr1a mutation (90 available)
Bmpr1a^tm2.1Bhr mutation (1 available); any Bmpr1a mutation (90 available)
Bmpr1b^tm1Kml mutation (0 available); any Bmpr1b mutation (40 available)
Tg(Six3-cre)69Frty mutation (2 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

vision/eye

abnormal retina ganglion cell morphology ( J:96964 )

• many dorsal retinal ganglion cell axons form ectopic termination zones

• eye size and retinal layer morphology are normal

nervous system

abnormal retina ganglion cell morphology ( J:96964 )

• many dorsal retinal ganglion cell axons form ectopic termination zones

• eye size and retinal layer morphology are normal

Allelic Composition	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Tg(Six3-cre)69Frty/0
Genetic Background	involves: 129S/SvEv

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

pigmentation

abnormal retina pigment epithelium morphology ( J:96964 )

• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen

vision/eye

increased retina apoptosis ( J:96964 )

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

abnormal eye development ( J:96964 )

• 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

abnormal retina morphology ( J:96964 )

• beginning at E11.25-E11.50 the retinal neuroectoderm is thinner

abnormal retina pigment epithelium morphology ( J:96964 )

• at E12.5 the margin of the pigment epithelium is rough and a ventral discontinuity of the pigment is seen

anophthalmia ( J:96964 )

• eyes are small at E12.5 and absent at birth

cellular

increased retina apoptosis ( J:96964 )

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

Allelic Composition	Bmpr1a^tm2.1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b^tm1Kml 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:
Bmpr1a^tm2.1Bhr mutation (1 available); any Bmpr1a mutation (90 available)
Bmpr1b^tm1Kml mutation (0 available); any Bmpr1b mutation (40 available)
Tg(Col2a1-cre)1Bhr mutation (3 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

Skeletal abnormalities in Bmpr1b^tm1Kml/Bmpr1b^tm1Kml, Bmpr1a^tm2.1Bhr/Bmpr1a^tm2.1Bhr Tg(Col2a1-cre)1Bhr/?, and Bmpr1a^tm2.1Bhr/Bmpr1a^tm2.1Bhr Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Tg(Col2a1-cre)1Bhr/? mice

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:97410 )

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

growth/size/body

short snout ( J:97410 )

• embryos develop short snouts

decreased fetal size ( J:97410 )

• mutants are reduced in size starting at E13.5

embryo

abnormal notochord morphology ( J:97410 )

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

skeleton

decreased radius size ( J:97410 )

• small radius

abnormal ulna morphology ( J:97410 )

• small ulna

abnormal vertebral column morphology ( J:97410 )

• vertebral column is completely absent at E14.5

abnormal chondrocyte morphology ( J:97410 )

• chondrocytes undergo random and disorganized hypertrophy at P0

abnormal skeleton development ( J:97410 )

abnormal vertebrae development ( J:97410 )

• no vertebrae form by E13.5

abnormal cartilage development ( J:97410 )

• 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

abnormal chondrocyte differentiation ( J:97410 )

• 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

abnormal epiphyseal plate morphology ( J:97410 )

• the few cartilage condensations that do form are delayed in the prechondrocytic state and never form an organized growth plate

chondrodystrophy ( J:97410 )

• severe generalized chondrodysplasia

failure of endochondral bone ossification ( J:97410 )

• majority of skeletal elements that form through endochondral ossification are absent and the ones that form are rudimentary and malformed

limbs/digits/tail

decreased radius size ( J:97410 )

• small radius

abnormal ulna morphology ( J:97410 )

• small ulna

abnormal digit development ( J:97410 )

• digits by E14.5 have fully formed pericondria but cells within the cores do not exhibit prechondrocyte characteristics

short limbs ( J:97410 )

• embryos develop short limbs

short tail ( J:97410 )

• embryos develop short tails

craniofacial

short snout ( J:97410 )

• embryos develop short snouts

Allelic Composition	Bmpr1b^tm1Kml/Bmpr1b^tm1Kml Gdf5^bp-J/Gdf5^bp-J
Genetic Background	involves: 129S/SvEv * A/J * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmpr1b^tm1Kml mutation (0 available); any Bmpr1b mutation (40 available)
Gdf5^bp-J mutation (2 available); any Gdf5 mutation (32 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

abnormal limb morphology ( J:59282 )

• limbs of double homozygotes resemble those of single Gdf5^bp-J homozygotes

fused metacarpal bones ( J:59282 )

• fusion of the ulnar carpal and hamate bones

short metacarpal bones ( J:59282 )

• in the forelimbs, metacarpals I, II and V of newborns are reduced to a greater extent than in either single mutant

fused metatarsal bones ( J:59282 )

• fusions/reductions of sternal and tarsal elements are seen

skeleton

fused metacarpal bones ( J:59282 )

• fusion of the ulnar carpal and hamate bones

short metacarpal bones ( J:59282 )

• in the forelimbs, metacarpals I, II and V of newborns are reduced to a greater extent than in either single mutant

fused metatarsal bones ( J:59282 )

• fusions/reductions of sternal and tarsal elements are seen

Allelic Composition	Bmpr1b^tm1Kml/Bmpr1b⁺ Gdf5^bp-J/Gdf5⁺
Genetic Background	involves: 129S/SvEv * A/J * C57BL/6J

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

abnormal phalanx morphology ( J:59282 )

• 100% of mutants show delayed ossification of the middle phalanx

skeleton

abnormal phalanx morphology ( J:59282 )

• 100% of mutants show delayed ossification of the middle phalanx

delayed bone ossification ( J:59282 )

• 100% of mutants show delayed ossification of the middle phalanx

Allelic Composition	Bmp7^tm1Rob/Bmp7^tm1Rob Bmpr1b^tm1Kml/Bmpr1b^tm1Kml
Genetic Background	involves: 129S/SvEv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp7^tm1Rob mutation (2 available); any Bmp7 mutation (37 available)
Bmpr1b^tm1Kml mutation (0 available); any Bmpr1b mutation (40 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

limbs/digits/tail

decreased autopod size ( J:59282 )

• within the forelimb autopod, every element, except for the distal phalanx, is severely reduced or absent

brachyphalangia ( J:59282 )

• the phalanges are severely reduced

abnormal humerus morphology ( J:59282 )

• the trochanter of the humerus is absent

short humerus ( J:59282 )

short radius ( J:59282 )

short ulna ( J:59282 )

• ulna is nearly absent

short metacarpal bones ( J:59282 )

• the metacarpals are severely reduced

skeleton

brachyphalangia ( J:59282 )

• the phalanges are severely reduced

abnormal humerus morphology ( J:59282 )

• the trochanter of the humerus is absent

short humerus ( J:59282 )

short radius ( J:59282 )

short ulna ( J:59282 )

• ulna is nearly absent

short metacarpal bones ( J:59282 )

• the metacarpals are severely reduced

abnormal scapula morphology ( J:59282 )

• width of the dorsal margin of the scapula is reduced

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