All Phenotypes Tg(Col2a1-PTHLH)2Ecw MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Pthlh^tm1Hmk/Pthlh^tm1Hmk Tg(Col2a1-PTHLH)2Ecw/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3717417
cx2	Pthlh^tm1Hmk/Pthlh^tm1Hmk Tg(Col2a1-PTHLH)2Ecw/0 Tg(KRT14-PTHLH)7Wmp/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3717420
tg3	Tg(Col2a1-PTHLH)2Ecw/0	involves: C57BL/6 * SJL	MGI:3717413

♀	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

Allelic Composition	Pthlh^tm1Hmk/Pthlh^tm1Hmk Tg(Col2a1-PTHLH)2Ecw/0 Tg(KRT14-PTHLH)7Wmp/0
Genetic Background	involves: 129S2/SvPas * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlh^tm1Hmk mutation (0 available); any Pthlh mutation (19 available)
Tg(Col2a1-PTHLH)2Ecw mutation (0 available)
Tg(KRT14-PTHLH)7Wmp mutation (0 available)

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

Dental phenotype of Pthlh^tm1Hmk/Pthlh^tm1Hmk mice rescued with Tg(Col2a1-PTHLH)2Ecw and Tg(KRT14-PTHLH)7Wmp transgenes

mortality/aging

premature death ( J:50144 )

growth/size/body

long lower incisors ( J:50144 )

• malocclusion allows for unchecked growth of the lower incisors

malocclusion ( J:50144 )

• as a result of the chondrodystrophy in the skulls, the lower mandibular incisors protrude beyond the upper incisors

• upper incisors remain partly occluded and are less affected

• however, incisors and molars erupt normally and on schedule

decreased body size ( J:50144 )

decreased body weight ( J:50144 )

skeleton

long lower incisors ( J:50144 )

• malocclusion allows for unchecked growth of the lower incisors

malocclusion ( J:50144 )

• as a result of the chondrodystrophy in the skulls, the lower mandibular incisors protrude beyond the upper incisors

• upper incisors remain partly occluded and are less affected

• however, incisors and molars erupt normally and on schedule

short maxilla ( J:50144 )

• foreshortened maxilla

chondrodystrophy ( J:50144 )

• develop progressive chondrodystrophy

craniofacial

long lower incisors ( J:50144 )

• malocclusion allows for unchecked growth of the lower incisors

malocclusion ( J:50144 )

• as a result of the chondrodystrophy in the skulls, the lower mandibular incisors protrude beyond the upper incisors

• upper incisors remain partly occluded and are less affected

• however, incisors and molars erupt normally and on schedule

short maxilla ( J:50144 )

• foreshortened maxilla

Allelic Composition	Tg(Col2a1-PTHLH)2Ecw/0
Genetic Background	involves: C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.

♀	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

skeleton

abnormal bone mineralization ( J:50144 )

• mineralization is retarded in the tail vertebrae at birth but appears to be normal soon thereafter

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