Phenotypes Associated with This Genotype

Genotype
MGI:3620218

• Allelic Composition: Ihh^tm1Blan/Ihh^tm1Blan; Tg(Col2a1-cre)10Amc/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

postnatal lethality ( J:102870 )

skeleton

abnormal basicranium morphology ( J:102870 )

• synchondrosis of some bones

abnormal sternum morphology ( J:102870 )

• synchondrosis

abnormal vertebrae morphology ( J:102870 )

• synchondrosis of some vertebrae

abnormal bone structure ( J:102870 )

absent compact bone ( J:102870 )

• absent

abnormal trabecular bone morphology ( J:102870 )

• absent

abnormal cartilage morphology ( J:102870 )

disorganized long bone epiphyseal plate ( J:102870 )

• no organized growth plate is seen instead hypertrophic cells are located in the center of the cartilage surrounded by undifferentiated chondrocytes

• at E16.5 there is about a 50% decrease in proliferation of chondrocytes

abnormal synchondrosis ( J:102870 )

• synchondrosis of some bones of the skull base, vertebrae, and sternum

chondrodystrophy ( J:102870 )

• in the long bones

• dysregulation of chondrocyte maturation

abnormal bone ossification ( J:102870 )

• at E18.5 in the radius mineralization occurs in the center of the cartilage and not associated with a bone collar

• only hypertrophic chondrocytes located in the center of the cartilage show signs of mineralization

delayed endochondral bone ossification ( J:102870 )

• in general mineralization is delayed until E16.5, with severely affected bones showing greater delays

• mineralization of the radius is initiated in the center of the cartilage at E18.5

• at E18.5, dorsal portions of the ribs and distal parts of the long bones show essentially no mineralization

• however, intramembranous bone formation appears normal

limbs/digits/tail

abnormal digit morphology ( J:102870 )

• failure of digit segmentation

short limbs ( J:102870 )

• detectable at E14.5

craniofacial

abnormal basicranium morphology ( J:102870 )

• synchondrosis of some bones