Analysis Tools
mortality/aging
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• more than 64% of mice die before 12 weeks of age
• the oldest living mouse was 49 weeks old
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• fewer than the expected numbers of homozygotes are obtained (20% versus expected 25%) from heterozygous breeding
• however, no gross embryonic (E9.5, E12.5) or fetal (E14.5-E18.5) malformations are seen
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growth/size/body
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• increase in volume in the frontal bone with an anterior projection, mimicking the frontal bossing of the human phenotype
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• incisors or 8-week-old mice have a chalky white color compared to darker yellow/orange pigmentation in wild-type incisors
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• enamel pigmentation of the labial surface of the incisor is a chalky white instead of being the normal yellow/orange
• the white patches show fragmentation or chipping more pronounced at the bases of the lower incisors
• molars are abraded with enamel loss on the occlusal side exposing the dentin
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• adult mice show clear amelogenesis imperfecta-like tooth defects
• mice show defective incisor acidification; enamel of 12-week-old mice shows no acid -bands, staining all the enamel yellow, showing no changes in pH during amelogenesis
• enamel is less mature
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• an overall reduction in optical density is seen in both incisors and molars, indicating reduced enamel mineral density
• teeth show a near complete absence of opaque mineralized enamel matrix
• the enamel matrix has a reduced mineral content
• calcium levels in maturation stage and fully mineralized stage enamel are reduced by more than 80% and 70%, respectively
• phosphorous levels are diminished, with approximately 80% in maturation stage and 50% in fully mineralized stage enamel
• carbon levels, indicative of organic content, are higher in enamel and do not differ between maturation stage and mineralized enamel, suggesting a lack of enamel matrix degradation during the maturation stage of amelogenesis
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• decrease in dimensions in the nasal bone
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• mice show significant growth and weight reduction after weaning
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behavior/neurological
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• mice exhibit increased susceptibility to pentylenetetrazol (PTZ)-induced epilepsy and faster seizure onset; mice develop myoclonic seizures as well as clonic seizures which are not seen in the controls
• at the end of the convulsion, more than 90% of mutants present tonic seizures compared to less than 40% of wild-type mice
• however, no spontaneous seizures are seen
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• mice exhibit memory impairment in the novel object recognition test, showing decreased recognition index with no difference from chance
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• object exploration time is increased during the acquisition session of the novel object recognition test probably due to hyperactivity
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• muscle strength is decreased in a group of females
• however, mice show no variation in the muscle/body weight ratio and no morphological differences in muscle
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• mice show increased in locomotor activity during the first hour of the circadian activity test and during habituation, acquisition, and retention sessions of the novel object recognition test, indicating hyperactivity
• however, mice show no differences on the rotarod test indicating no motor impairment and no differences in the elevated plus maze
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craniofacial
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• increase in volume in the frontal bone with an anterior projection, mimicking the frontal bossing of the human phenotype
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• decrease in dimensions in the occipital bone
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• increase in volume in the parietal bones with a wider width, mimicking the parietal
bossing of the human phenotype
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• decrease in dimensions in the temporal bone (with the squamous portion)
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• incisors or 8-week-old mice have a chalky white color compared to darker yellow/orange pigmentation in wild-type incisors
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• enamel pigmentation of the labial surface of the incisor is a chalky white instead of being the normal yellow/orange
• the white patches show fragmentation or chipping more pronounced at the bases of the lower incisors
• molars are abraded with enamel loss on the occlusal side exposing the dentin
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• adult mice show clear amelogenesis imperfecta-like tooth defects
• mice show defective incisor acidification; enamel of 12-week-old mice shows no acid -bands, staining all the enamel yellow, showing no changes in pH during amelogenesis
• enamel is less mature
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• an overall reduction in optical density is seen in both incisors and molars, indicating reduced enamel mineral density
• teeth show a near complete absence of opaque mineralized enamel matrix
• the enamel matrix has a reduced mineral content
• calcium levels in maturation stage and fully mineralized stage enamel are reduced by more than 80% and 70%, respectively
• phosphorous levels are diminished, with approximately 80% in maturation stage and 50% in fully mineralized stage enamel
• carbon levels, indicative of organic content, are higher in enamel and do not differ between maturation stage and mineralized enamel, suggesting a lack of enamel matrix degradation during the maturation stage of amelogenesis
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• decrease in dimensions in the premaxillary bone
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• decrease in dimensions in the maxillary bone
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• decrease in dimensions in the nasal bone
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digestive/alimentary system
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• 80% of mice show distended stomach full of undigested food
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• stomach content pH is 6 instead of the normal pH of 3
• however, bowel appears normal with fecal matter present throughout
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homeostasis/metabolism
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• males show lower plasma calcium level
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• females show higher levels of plasma alkaline phosphatase
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nervous system
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• mice exhibit increased susceptibility to pentylenetetrazol (PTZ)-induced epilepsy and faster seizure onset; mice develop myoclonic seizures as well as clonic seizures which are not seen in the controls
• at the end of the convulsion, more than 90% of mutants present tonic seizures compared to less than 40% of wild-type mice
• however, no spontaneous seizures are seen
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• P15 cerebellum shows increased thickness of the external granule layer
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• the granular layer of the dentate gyrus is thicker at P15
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• the thickness of the Oriens layer of the CA1 region of the hippocampus is decreased
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• P15 cerebellum shows increased external granular layer thickness of the simplex lobule
• P15 cerebellum shows decreased thickness of the simplex molecular layer
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• P15 cerebellum shows increased external granule layer thickness of the paramedian lobule
• however, the vermal lobule IV/V and crus I lobule appear normal
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• P15 cerebellum shows decreased thickness of the crus II internal granular layer
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• P15 cerebellum shows decreased thickness of the simplex molecular layer
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respiratory system
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• decrease in dimensions in the nasal bone
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skeleton
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• increase in volume in the frontal bone with an anterior projection, mimicking the frontal bossing of the human phenotype
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• decrease in dimensions in the occipital bone
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• increase in volume in the parietal bones with a wider width, mimicking the parietal
bossing of the human phenotype
|
|
• decrease in dimensions in the temporal bone (with the squamous portion)
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• incisors or 8-week-old mice have a chalky white color compared to darker yellow/orange pigmentation in wild-type incisors
|
|
• enamel pigmentation of the labial surface of the incisor is a chalky white instead of being the normal yellow/orange
• the white patches show fragmentation or chipping more pronounced at the bases of the lower incisors
• molars are abraded with enamel loss on the occlusal side exposing the dentin
|
|
• adult mice show clear amelogenesis imperfecta-like tooth defects
• mice show defective incisor acidification; enamel of 12-week-old mice shows no acid -bands, staining all the enamel yellow, showing no changes in pH during amelogenesis
• enamel is less mature
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• an overall reduction in optical density is seen in both incisors and molars, indicating reduced enamel mineral density
• teeth show a near complete absence of opaque mineralized enamel matrix
• the enamel matrix has a reduced mineral content
• calcium levels in maturation stage and fully mineralized stage enamel are reduced by more than 80% and 70%, respectively
• phosphorous levels are diminished, with approximately 80% in maturation stage and 50% in fully mineralized stage enamel
• carbon levels, indicative of organic content, are higher in enamel and do not differ between maturation stage and mineralized enamel, suggesting a lack of enamel matrix degradation during the maturation stage of amelogenesis
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• decrease in dimensions in the premaxillary bone
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• decrease in dimensions in the maxillary bone
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• decrease in dimensions in the nasal bone
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Kohlschutter-Tonz syndrome | DOID:0111668 |
OMIM:226750 |
J:344072 | |
