Phenotypes Associated with This Genotype

Genotype
MGI:5299324

• Allelic Composition: Lrp5^tm1.2Vari/Lrp5^tm1.2Vari; Lrp6^tm1.1Vari/Lrp6^tm1.1Vari; Twist2^tm1(cre)Dor/Twist2⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:178499 )

• mice die shortly after birth

skeleton

abnormal skeleton morphology ( J:178499 )

• all skeletal elements are shortened

abnormal cranium morphology ( J:178499 )

split sternum ( J:178499 )

abnormal bone structure ( J:178499 )

• mice exhibit partial bone collar

abnormal osteoblast differentiation ( J:178499 )

• mature osteoblasts fail to form

abnormal trabecular bone morphology ( J:178499 )

• absent

abnormal cartilage morphology ( J:178499 )

• mice exhibit extra cartilage elements (typically 4) in the zeugopod and in some autopods

ectopic cartilage ( J:178499 )

• at the diaphysis and surrounding the marrow cavity

abnormal joint morphology ( J:178499 )

• mice lack joints at multiple locations including the knees

abnormal epiphyseal plate morphology ( J:178499 )

decreased width of hypertrophic chondrocyte zone ( J:178499 )

• at E14.5, mice exhibit a delay in chondrocyte hypertrophy

abnormal bone ossification ( J:178499 )

• profound defect in ossification of the craniofacial, the rest of the axial, and the appendicular skeleton

• partial ossification of the scapula and ileum

failure of bone ossification ( J:178499 )

• except for the scapula and ileum

growth/size/body

decreased body size ( J:178499 )

cellular

abnormal osteoblast differentiation ( J:178499 )

• mature osteoblasts fail to form

limbs/digits/tail

abnormal limb morphology ( J:178499 )

• mice exhibit an additional element bridging the zeugopod and stylopod

craniofacial

abnormal cranium morphology ( J:178499 )