Phenotypes Associated with This Genotype

Genotype
MGI:3785771

• 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

• ♀: 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