Phenotypes Associated with This Genotype

Genotype
MGI:3700042

• Allelic Composition: Bmp2^tm1Cjt/Bmp2^tm1Cjt; Bmp4^tm1Jfm/Bmp4^tm1Jfm; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6 * SJL

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

Mice deficient singly or in various combinations of Bmp2, Bmp4 and Bmp7 display limb defects

embryo

abnormal apical ectodermal ridge morphology ( J:118257 )

• AER is expanded and maintained much later (>E15.5) than in wild-type

broad limb buds ( J:118257 )

• at E11.5, limb buds are noticeably broader relative to wild-type

immune system

abnormal bone marrow development ( J:118257 )

• has not yet started at birth

limbs/digits/tail

abnormal interdigital cell death ( J:118257 )

• interdigital apoptosis is reduced at E15.5

abnormal apical ectodermal ridge morphology ( J:118257 )

• AER is expanded and maintained much later (>E15.5) than in wild-type

broad limb buds ( J:118257 )

• at E11.5, limb buds are noticeably broader relative to wild-type

abnormal autopod morphology ( J:118257 )

• at E15.5 autopod adopts notched pallet form, with only distal tip of each digit separated

decreased autopod size ( J:118257 )

• autopod elements are reduced in size

abnormal digit morphology ( J:118257 )

• the two posterior-most digits are missing in the forelimbs

syndactyly ( J:118257 )

• in newborns, the digits of both forelimb and hindlimb show complete syndactyly

• in the limbs of E15.5 embryos, only the very distal tip of each digit is separated, with the autopod adopting the shape of a notched pallet

abnormal forelimb stylopod morphology ( J:118257 )

• mice have short and malformed stylopods

abnormal forelimb zeugopod morphology ( J:118257 )

• one of the zeugopod elements is almost always missing, while the other is so deformed it is hard to accurately identify

abnormal hindlimb stylopod morphology ( J:118257 )

• mice have short and malformed stylopods

abnormal hindlimb zeugopod morphology ( J:118257 )

• one of the zeugopod elements is almost always missing, while the other is so deformed it is hard to accurately identify

skeleton

abnormal long bone diaphysis morphology ( J:118257 )

• at 3 weeks, all mineralized cartilage in diaphyseal region has disappeared, leaving a void where bone formation should have occurred

abnormal bone marrow cavity morphology ( J:118257 )

• cavity formation is delayed

abnormal cartilage development ( J:118257 )

• loss of posterior digits in the forelimbs due to failure of chondrogenesis in this region as indicated by marker analysis

fused joints ( J:118257 )

• joint articulations are defective such that the zeugopod and stylopod elements are fused

abnormal bone ossification ( J:118257 )

• 1-3 weeks after birth, no bone marrow cavity, trabecular bone, or cortical bone is present

delayed bone ossification ( J:118257 )

• at 1-3 weeks after birth , bone formation is not observed in femur for example; skeletal elements in mutants remain similar to E17.5 structures seen in wild-type limbs

delayed endochondral bone ossification ( J:118257 )

• in E17.5 limbs, delay in endochondral process is observed; bone morphology at birth resembles E17.5 in wild-type

cellular

abnormal interdigital cell death ( J:118257 )

• interdigital apoptosis is reduced at E15.5