Analysis Tools
craniofacial
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• homozygotes fail to extend the presphenoid, basosphenoid, and the basooccipital bones resulting in a shortened cranial base and abnormal incisor apposition
(J:76213)
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• shortened cranial base
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• the membranous bones of the mutant vault expand outward and upward, resulting in a domed skull
• no pathological synostosis, i.e. premature fusion of cranial vault sutures is observed
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• at 1-2 d after birth, homozygotes show abnormal basooccipital-basosphenoid synchondrosis, with no columns of proliferating chondrocytes identified in the mutant synchondrosis
(J:76213)
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• the foramen magnum is displaced to a more anterior position
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• at 2-, 4 and 12 months, homozygotes fail to exhibit fusion of the frontal bones
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• mutant skulls exhibit occipital bossing
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• at 2 months, homozygotes exhibit abnormal apposition of the upper and lower incisors
(J:76213)
• lower incisors extend outside of/or abut the upper incisors
(J:79920)
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• analysis of continuously growing incisor enamel organ shows a cohesive, however at defined locations, non-palisadic ameloblast layer facing a thinner disorganized enamel matrix
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• enamel is less mineralized and exhibits an unusual wavy pattern with alternating area of presence/absence
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• enamel defects with very thin or absent enamel in both incisors and molars
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• at 2 months, the mutant mandible extends beyond the maxilla
(J:76213)
• shortening of the cranial base disrupts the normal closure of the upper and lower jaws
(J:79920)
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prognathia
(
J:220985
)
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• mandibular prognathism
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• at 2 months, homozygotes exhibit a domed skull
(J:76213)
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• by day 10, homozygotes display a shortened snout
(J:76213)
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round head
(
J:76213
)
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• homozygotes are born in the expected Mendelian ratio with no overt defects; however, at day 10, mutants exhibit a rounded head
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growth/size/body
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• at 2 months, homozygotes exhibit abnormal apposition of the upper and lower incisors
(J:76213)
• lower incisors extend outside of/or abut the upper incisors
(J:79920)
|
|
• analysis of continuously growing incisor enamel organ shows a cohesive, however at defined locations, non-palisadic ameloblast layer facing a thinner disorganized enamel matrix
|
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• enamel is less mineralized and exhibits an unusual wavy pattern with alternating area of presence/absence
|
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• enamel defects with very thin or absent enamel in both incisors and molars
|
|
• at 2 months, the mutant mandible extends beyond the maxilla
(J:76213)
• shortening of the cranial base disrupts the normal closure of the upper and lower jaws
(J:79920)
|
|
• by day 10, homozygotes display a shortened snout
(J:76213)
|
round head
(
J:76213
)
|
• homozygotes are born in the expected Mendelian ratio with no overt defects; however, at day 10, mutants exhibit a rounded head
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• at 3 months, homozygotes weigh less than 60% of wild-type and heterozygous sex-matched littermates
(J:76213)
• by 8 days, homozygotes weigh 70-80% of wild-type and heterozygous sex-matched littermates
(J:79920)
• at 3 weeks, homozygotes weigh 30-80% of wild-type and heterozygous littermates
(J:79920)
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• by day 8 after birth, homozygotes exhibit growth retardation
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immune system
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• at 6-9 months, homozygotes develop progressive degeneration of articular cartilage resembling osteoarthritis
(J:76213)
• by 9 months, homozygotes show absence of articular cartilage; the articular surface looks ossified and fibrotic and osteophytes are present
(J:76213)
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skeleton
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• homozygotes fail to extend the presphenoid, basosphenoid, and the basooccipital bones resulting in a shortened cranial base and abnormal incisor apposition
(J:76213)
|
|
• shortened cranial base
|
|
• the membranous bones of the mutant vault expand outward and upward, resulting in a domed skull
• no pathological synostosis, i.e. premature fusion of cranial vault sutures is observed
|
|
• at 1-2 d after birth, homozygotes show abnormal basooccipital-basosphenoid synchondrosis, with no columns of proliferating chondrocytes identified in the mutant synchondrosis
(J:76213)
|
|
• the foramen magnum is displaced to a more anterior position
|
|
• at 2-, 4 and 12 months, homozygotes fail to exhibit fusion of the frontal bones
|
|
• mutant skulls exhibit occipital bossing
|
|
• at 2 months, homozygotes exhibit abnormal apposition of the upper and lower incisors
(J:76213)
• lower incisors extend outside of/or abut the upper incisors
(J:79920)
|
|
• analysis of continuously growing incisor enamel organ shows a cohesive, however at defined locations, non-palisadic ameloblast layer facing a thinner disorganized enamel matrix
|
|
• enamel is less mineralized and exhibits an unusual wavy pattern with alternating area of presence/absence
|
|
• enamel defects with very thin or absent enamel in both incisors and molars
|
|
• at 2 months, the mutant mandible extends beyond the maxilla
(J:76213)
• shortening of the cranial base disrupts the normal closure of the upper and lower jaws
(J:79920)
|
prognathia
(
J:220985
)
|
• mandibular prognathism
|
|
• at 2 months, homozygotes exhibit a domed skull
(J:76213)
|
|
• at 6-9 months, homozygotes develop progressive degeneration of articular cartilage resembling osteoarthritis
(J:76213)
• by 9 months, homozygotes show absence of articular cartilage; the articular surface looks ossified and fibrotic and osteophytes are present
(J:76213)
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• at 1-2 d after birth, homozygotes show no identifiable columns of proliferating chondrocytes in the basooccipital-basosphenoid synchondrosis
(J:76213)
• cell density in the proliferative zone is increased compared to in wild-type mice
(J:163721)
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• at 1-2 d after birth, homozygotes exhibit wider zones of hypertrophic chondrocytes in the basooccipital-basosphenoid synchondrosis
(J:76213)
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• at 6-9 months, homozygotes show an increased number of metaphysial trabeculae in long bones and vertebrae
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• endochondral bones from adult homozygotes are shorter by ~10-25% relative to wild-type
(J:76213)
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• homozygotes exhibit a distorted ribcage
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• at 2 months, homozygotes display curvature of the thoracic vertebrae
(J:76213)
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• at 2 months, homozygotes display curvature of the cervical vertebrae
(J:76213)
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• at 3 months, homozygotes exhibit increased trabecular mass in the long bones and vertebrae
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• homozygotes develop progressive osteosclerosis between 6 and 9 months of age
(J:76213)
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• at 6-9 months, mutant knee and vertebral joints show degenerative changes in articular cartilage
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• within 2 weeks of birth, mutant skulls exhibit premature ossification of the cranial base synchondroses; in contrast, wild-type synchondroses never ossify, enabling growth of the cranial base through endochondral ossification
(J:76213)
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• homozygotes defective bone remodeling and homeostasis, consistent with aberrant TGF-beta signaling in the skull and long bones
(J:76213)
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| brachyolmia-amelogenesis imperfecta syndrome | DOID:0090143 |
OMIM:601216 |
J:220985 | |
