Phenotypes Associated with This Genotype

Genotype
MGI:3575290

• Allelic Composition: Gnas^tm3Lsw/Gnas^tm3Lsw; Tg(Col2a1-cre)1Rsjo/0
• Genetic Background: involves: 129S6/SvEvTac * FVB/N

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

mortality/aging

neonatal lethality, complete penetrance ( J:97230 )

• all newborn pups died minutes after birth

craniofacial

domed cranium ( J:97230 )

homeostasis/metabolism

cyanosis ( J:97230 )

• all newborn pups had cyanosis

limbs/digits/tail

abnormal tibia morphology ( J:97230 )

• tibial epiphyses at P0.5 were decreased in length

• at P0.5, ectopic cartilage was present in the upper one-third portion of the frontal tibia and was clearly spatially separated from epiphyseal plate cartilage

short limbs ( J:97230 )

respiratory system

abnormal pulmonary alveolus morphology ( J:97230 )

• lung alveoli did not contain air and did not exhibit any obvious abnormalities in alveolar organization

skeleton

domed cranium ( J:97230 )

abnormal tibia morphology ( J:97230 )

• tibial epiphyses at P0.5 were decreased in length

• at P0.5, ectopic cartilage was present in the upper one-third portion of the frontal tibia and was clearly spatially separated from epiphyseal plate cartilage

abnormal long bone epiphyseal plate morphology ( J:97230 )

• the layer of periarticular chondrocytes was shortened, and the layer of proliferating chondrocytes was markedly shortened, whereas the size of the zone of hypertrophic chondrocytes was unaffected, and no differences in chondrocyte proliferation rate or cellular density within these zones was observed

• pool of proliferating chondrocytes was reduced, whereas the pool of postmitotic (hypertrophic) chondrocytes was maintained, indicating accelerated hypertrophic differentiation of growth plate chondrocytes

abnormal long bone epiphyseal plate proliferative zone ( J:97230 )

• the layer of proliferating chondrocytes was markedly shortened however no difference in the chondrocyte proliferation rate or cellular density was observed

abnormal long bone epiphysis morphology ( J:97230 )

• tibial epiphyses at P0.5 were decreased in length

abnormal cartilage development ( J:97230 )

• beginning at E18.5, mutants developed ectopic cartilage, comprised of prehypertrophic and hypertrophic chondrocytes, between the authentic cortical bone and the perichondrium in the tibia

• at P0.5, ectopic cartilage was present in the upper one-third portion of the frontal tibia and was clearly spatially separated from epiphyseal plate cartilage