Phenotypes Associated with This Genotype

Genotype
MGI:3717417

• Allelic Composition: Pthlh^tm1Hmk/Pthlh^tm1Hmk; Tg(Col2a1-PTHLH)2Ecw/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

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

Skeletal phenotypes of wild type, Tg(Col2a1-PTHLH)2Ecw/0, Pthlh^tm1Hmk/Pthlh^tm1Hmk, and Pthlh^tm1Hmk/Pthlh^tm1Hmk Tg(Col2a1-PTHLH)2Ecw/0 mice

mortality/aging

premature death ( J:50144 )

• life span of the rest is about 6 months

postnatal lethality, incomplete penetrance ( J:50144 )

• less than half survive past 3 weeks of age

growth/size/body

frontal bossing ( J:50144 )

abnormal molar morphology ( J:50144 )

• the molar crypt is choked with bone and the teeth are distorted, however the ameloblast layer is intact and the enamel is deposited

abnormal tooth development ( J:50144 )

• tooth morphogenesis is normal in late gestation but by birth, incisors are impacted and by 1 week of age, the molars are also impacted

failure of tooth eruption ( J:50144 )

• failure of tooth eruption leading to the absence of external incisors and molars

tooth impaction ( J:50144 )

• incisors and molars are impacted

tooth ankylosis ( J:50144 )

• teeth become irreversibly ankylosed because of the fusion of the dental cementum with the encroaching alveolar bone

abnormal enamel morphology ( J:50144 )

• enamel is absent from the labial surface of the incisor

abnormal ameloblast morphology ( J:50144 )

• the ameloblast layer of incisors is missing

absent tooth root ( J:50144 )

• failure of root formation

flattened snout ( J:50144 )

decreased body size ( J:50144 )

• mutants fail to thrive and exhibit a 50% reduction in both size and weight by the time of weaning

disproportionate dwarf ( J:50144 )

• with increasing age, display a progressive short-limbed dwarfism

limbs/digits/tail

short limbs ( J:50144 )

• foreshortening of the limbs is apparent by 8 weeks of age

vision/eye

shallow orbits ( J:50144 )

• shallow eye sockets

exophthalmos ( J:50144 )

• shallow eye sockets cause ocular proptosis

craniofacial

abnormal neurocranium morphology ( J:50144 )

• with increasing age, display doming of the calvarium

frontal bossing ( J:50144 )

shallow orbits ( J:50144 )

• shallow eye sockets

abnormal molar morphology ( J:50144 )

• the molar crypt is choked with bone and the teeth are distorted, however the ameloblast layer is intact and the enamel is deposited

abnormal tooth development ( J:50144 )

• tooth morphogenesis is normal in late gestation but by birth, incisors are impacted and by 1 week of age, the molars are also impacted

failure of tooth eruption ( J:50144 )

• failure of tooth eruption leading to the absence of external incisors and molars

tooth impaction ( J:50144 )

• incisors and molars are impacted

tooth ankylosis ( J:50144 )

• teeth become irreversibly ankylosed because of the fusion of the dental cementum with the encroaching alveolar bone

abnormal enamel morphology ( J:50144 )

• enamel is absent from the labial surface of the incisor

abnormal ameloblast morphology ( J:50144 )

• the ameloblast layer of incisors is missing

absent tooth root ( J:50144 )

• failure of root formation

short mandible ( J:50144 )

• foreshortened mandible

short maxilla ( J:50144 )

• foreshortened maxilla

flattened snout ( J:50144 )

skeleton

abnormal neurocranium morphology ( J:50144 )

• with increasing age, display doming of the calvarium

frontal bossing ( J:50144 )

shallow orbits ( J:50144 )

• shallow eye sockets

abnormal molar morphology ( J:50144 )

• the molar crypt is choked with bone and the teeth are distorted, however the ameloblast layer is intact and the enamel is deposited

abnormal tooth development ( J:50144 )

• tooth morphogenesis is normal in late gestation but by birth, incisors are impacted and by 1 week of age, the molars are also impacted

failure of tooth eruption ( J:50144 )

• failure of tooth eruption leading to the absence of external incisors and molars

tooth impaction ( J:50144 )

• incisors and molars are impacted

tooth ankylosis ( J:50144 )

• teeth become irreversibly ankylosed because of the fusion of the dental cementum with the encroaching alveolar bone

abnormal enamel morphology ( J:50144 )

• enamel is absent from the labial surface of the incisor

abnormal ameloblast morphology ( J:50144 )

• the ameloblast layer of incisors is missing

absent tooth root ( J:50144 )

• failure of root formation

short mandible ( J:50144 )

• foreshortened mandible

short maxilla ( J:50144 )

• foreshortened maxilla

chondrodystrophy ( J:50144 )

• cranial chondrodystrophy includes doming of the calvarium, frontal bossing, and a flattened snout