Phenotypes Associated with This Genotype

Genotype
MGI:3710956

• Allelic Composition: Ift88^tm1Bky/Ift88^tm1.1Bky; Tg(Prrx1-cre)1Cjt/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * SJL/J

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

skeleton

decreased length of long bones ( J:117033 )

• at E18.5, mice display varying severities of endochondral bone defects in all long bones with dramatic reduction in overall length

abnormal osteoblast morphology ( J:117033 )

• mice lack expression of an osteoblast-specific marker (alkaline phosphates) in the perichondrium

• cells adjacent to the perichondrium resemble chondrocytes rather than osteoblast

abnormal chondrocyte morphology ( J:117033 )

• at E18.5, proliferating chondrocytes in the growth region of the tibia are round and flat

• at E18.5, only small cilia are occasionally observed on chondrocytes of the developing tibia

• at E18.5, ectopic chondrocytes are seen in the perichondrium

abnormal perichondrium morphology ( J:117033 )

• at E18.5, perichondrial cells are disorganized, do not adopt the characteristic flattened morphology and are not evenly distributed along the bone

• at E18.5, bone collar formation is absent in the tibia

• at E18.5, some cells in the perichondrium appear to be differentiating into chondrocytes rather than into osteoblasts

abnormal skeleton development ( J:117033 )

• at E18.5, bone vascularization is delayed and hypertrophic cells persist

decreased long bone epiphyseal plate size ( J:117033 )

• at E18.5, the growth region of the tibia contains only a small disorganized area of round and flat proliferating chondrocytes

disorganized long bone epiphyseal plate ( J:117033 )

• at E18.5, the growth region of the tibia contains only a small disorganized area of round and flat proliferating chondrocytes

abnormal bone mineralization ( J:117033 )

• only some regions of the tibia contain mineralized bone

limbs/digits/tail

abnormal limb bud morphology ( J:117033 )

• at E11.5, very few cells with cilia are present in the limb mesenchyme

• however, cilia of the overlying ectoderm is normal

polydactyly ( J:117033 )

• at E18.5, mice have 8 or more non-patterned digits on their forelimbs while each hindlimb has a single extra preaxial digit (typically a duplication of digit 1)

short limbs ( J:117033 )

• at E13.5 and P11, all four limbs are shortened in the proximodistal axis

• however, limb patterning is normal

growth/size/body

decreased body size ( J:117033 )

• mice are smaller postnatally

embryo

abnormal limb bud morphology ( J:117033 )

• at E11.5, very few cells with cilia are present in the limb mesenchyme

• however, cilia of the overlying ectoderm is normal