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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Postntm1Sjc
targeted mutation 1, Simon J Conway
MGI:3611751
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Postntm1Sjc/Postntm1Sjc B6.Cg-Postntm1Sjc MGI:5511052
hm2
Postntm1Sjc/Postntm1Sjc involves: C57BL/6 MGI:3629331


Genotype
MGI:5511052
hm1
Allelic
Composition
Postntm1Sjc/Postntm1Sjc
Genetic
Background
B6.Cg-Postntm1Sjc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Postntm1Sjc mutation (0 available); any Postn mutation (52 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• mutants fed a soft diet show alterations of the crestal alveolar bone and the deeper alveolar bone and cementum-enamel junction, particularly around the proximal root of the first molar
• mutants fed a soft diet exhibit a higher distance between the molar root and the enamel of the underlying incisor, indicating alveolar bone alteration
• treatment with zoledronate improves systemic and alveolar bone alterations in ovariectomized mice without producing jaw bone necrosis
• 13 month old mutants fed a soft diet show some inflammatory infiltrates around the periodontal ligament but no signs of active inflammation in gingival, periradicular and jaw bone compartments indicating absence of overt periodontal disease
• mutants fed a soft diet exhibit alteration of the enamel that affects the incisor from the apex to the incisor edge
• large medullar spaces filled by fibrous tissue are seen in the mandibles of mutants fed a soft diet, whereas no fibrous tissue is seen in wild-type mice
• mutants fed a soft diet exhibit lower basal and alveolar bone volume fraction in the mandible
• mutants fed a soft diet have a higher osteoclast number in the bone area between the molar root and the enamel of the underlying incisor
• mutants fed a soft diet exhibit alveolar and systemic osteopenia without overt periodontal disease
• intact and ovariectomized females exhibit lower femur bone mineral density
• treatment with zoledronate improves bone mineral density, femur trabecular bone volume on tissue volume and cortical bone volume in both wild-type and mutant ovariectomized females
• intact and ovariectomized females exhibit lower femur bone mineral density
• intact and ovariectomized females exhibit lower cortical bone microarchitecture
• intact and ovariectomized females exhibit lower trabecular bone microarchitecture
• mutants fed a soft diet exhibit lower bone formation indices in the mandibles
• intact and ovariectomized females exhibit decreased bone formation indices in the femur and mandible

craniofacial
• mutants fed a soft diet show alterations of the crestal alveolar bone and the deeper alveolar bone and cementum-enamel junction, particularly around the proximal root of the first molar
• mutants fed a soft diet exhibit a higher distance between the molar root and the enamel of the underlying incisor, indicating alveolar bone alteration
• treatment with zoledronate improves systemic and alveolar bone alterations in ovariectomized mice without producing jaw bone necrosis
• 13 month old mutants fed a soft diet show some inflammatory infiltrates around the periodontal ligament but no signs of active inflammation in gingival, periradicular and jaw bone compartments indicating absence of overt periodontal disease
• mutants fed a soft diet exhibit alteration of the enamel that affects the incisor from the apex to the incisor edge
• large medullar spaces filled by fibrous tissue are seen in the mandibles of mutants fed a soft diet, whereas no fibrous tissue is seen in wild-type mice
• mutants fed a soft diet exhibit lower basal and alveolar bone volume fraction in the mandible

hematopoietic system
• mutants fed a soft diet have a higher osteoclast number in the bone area between the molar root and the enamel of the underlying incisor

immune system
• mutants fed a soft diet have a higher osteoclast number in the bone area between the molar root and the enamel of the underlying incisor

growth/size/body
• mutants fed a soft diet show alterations of the crestal alveolar bone and the deeper alveolar bone and cementum-enamel junction, particularly around the proximal root of the first molar
• mutants fed a soft diet exhibit a higher distance between the molar root and the enamel of the underlying incisor, indicating alveolar bone alteration
• treatment with zoledronate improves systemic and alveolar bone alterations in ovariectomized mice without producing jaw bone necrosis
• 13 month old mutants fed a soft diet show some inflammatory infiltrates around the periodontal ligament but no signs of active inflammation in gingival, periradicular and jaw bone compartments indicating absence of overt periodontal disease
• mutants fed a soft diet exhibit alteration of the enamel that affects the incisor from the apex to the incisor edge

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
bone structure disease DOID:0080010 J:200192




Genotype
MGI:3629331
hm2
Allelic
Composition
Postntm1Sjc/Postntm1Sjc
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Postntm1Sjc mutation (0 available); any Postn mutation (52 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 14% of pups die within 2 to 3 weeks of birth

growth/size/body
• progressive enamel defect resulting in a decreased mesial-distal area and the presence of a mandibular incisor interproximal space
• at 5 months, the incisal edge is abnormally worn and the enamel surface is deformed and cleft
• incisor canals are obliterated
• placing mice on a soft powdered chow diet reduced the severity of defects
• at 4 weeks of age fully erupted molar roots show signs of resorption
• at 4 weeks of age fully erupted molars display widening of the periodontal ligament
• at 3 months of age, high levels of inflammatory infiltrate, primarily consisting of neutrophils, are seen in the periodontal ligament
• presence of this infiltrate results in local conversion of the periodontal ligament to granulation tissue
• foreign particles, such as hair shafts, are seen in the periodontal ligament
• structural defects are detected by spectroscopy; however, calcium and phosphate content are not significantly different from wild-type
• backscatter scanning electron microscopic images indicate a hypermineralization of the dentin
• progressive incisor enamel defect that result in deformation of the entire facial enamel surface of the upper and lower incisors
• no defect is apparent before weaning
• initially the enamel shows a hypoplastic like condition with decreased translucence and a reduced incisor mesial-distal area
• by 5 months, a highly radiopaque deformed and cleft surface extends from the apex forward to the incisal edge
• also at 5 months the incisor enamel surface is thinner with an irregular and poorly defined structure
• on a powdered soft chow diet only mild clefting of the enamel is seen
• in adult mice, the enamel epithelium has a psuedostratified structure that appears to produce an amorphous matrix that covers the dentin and is ectopically present within the epithelium
• however, at 2 weeks of age the ameloblast layer appears similar to wild-type
• at 3 months of age radiographic signs of external root resorption are seen and a significant increase in osteoclast activity is seen in the periodontium
• 12 week old mice are about 15 - 30% smaller than wild-type
• 12 week old mice weigh about 50% less than wild-type mice
• placing mice on a soft powdered chow diet decreases the difference in body weight
• growth rate declines around weaning

skeleton
• on average the adult skull is about 7% shorter and 15% narrower than wild-type littermates
• progressive enamel defect resulting in a decreased mesial-distal area and the presence of a mandibular incisor interproximal space
• at 5 months, the incisal edge is abnormally worn and the enamel surface is deformed and cleft
• incisor canals are obliterated
• placing mice on a soft powdered chow diet reduced the severity of defects
• at 4 weeks of age fully erupted molar roots show signs of resorption
• at 4 weeks of age fully erupted molars display widening of the periodontal ligament
• at 3 months of age, high levels of inflammatory infiltrate, primarily consisting of neutrophils, are seen in the periodontal ligament
• presence of this infiltrate results in local conversion of the periodontal ligament to granulation tissue
• foreign particles, such as hair shafts, are seen in the periodontal ligament
• structural defects are detected by spectroscopy; however, calcium and phosphate content are not significantly different from wild-type
• backscatter scanning electron microscopic images indicate a hypermineralization of the dentin
• progressive incisor enamel defect that result in deformation of the entire facial enamel surface of the upper and lower incisors
• no defect is apparent before weaning
• initially the enamel shows a hypoplastic like condition with decreased translucence and a reduced incisor mesial-distal area
• by 5 months, a highly radiopaque deformed and cleft surface extends from the apex forward to the incisal edge
• also at 5 months the incisor enamel surface is thinner with an irregular and poorly defined structure
• on a powdered soft chow diet only mild clefting of the enamel is seen
• in adult mice, the enamel epithelium has a psuedostratified structure that appears to produce an amorphous matrix that covers the dentin and is ectopically present within the epithelium
• however, at 2 weeks of age the ameloblast layer appears similar to wild-type
• at 3 months of age radiographic signs of external root resorption are seen and a significant increase in osteoclast activity is seen in the periodontium
• about 16% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• placing mice on a soft powdered chow diet results in bone length similar to wild-type
• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• placing mice on a soft powdered chow diet results in bone length similar to wild-type
• about 23% smaller than in wild-type littermates at 4 months of age
• at 4 months of age ribs have smaller growth plates, and contain fewer trabeculae compared to wild-type littermates
• 12% shorter
• 22% narrower in diameter
• trabeculae are reduced in the ribs and limb bones
• placing mice on a soft powdered chow diet grossly rescues the cancellous bone defects
• rib growth plates are smaller

cardiovascular system
• acellular deposits of extracellular matrix produce discontinuities in the valve leaflets and ectopic islands of Acta1 positive cells are found in the leaflets

muscle
N
• myotendinous junctions and the periosteum are similar to wild-type

reproductive system
• smaller, in proportion with overall reduction in body size
• histology appears normal
• smaller, in proportion with overall reduction in body size
• histology appears normal
• smaller, in proportion with overall reduction in body size
• however, histology appears normal and the proliferative phase occurs as normal
• vaginal plugs abnormally persist for up to 3 days
• females fail to cycle; however, folliculogenesis appears intact
• despite plugs and the presence of 2- and 4-cell zygotes no implantation sites are detected at 6 to 10 days after plug detection
• on a powdered soft chow diet some female are able to carry and deliver pups and litter sizes are similar to wild-type but fecundity is reduced to 1.7 +/- 0.5 litters/female compared to 3.1 +/- 0.6 litters/female for wild-type mice on a standard chow diet

immune system
• at 3 months of age, high levels of inflammatory infiltrate, primarily consisting of neutrophils, are seen in the periodontal ligament
• presence of this infiltrate results in local conversion of the periodontal ligament to granulation tissue

endocrine/exocrine glands
N
• histology of the gonads, thyroid glands and pituitaries is normal
• smaller, in proportion with overall reduction in body size
• histology appears normal

limbs/digits/tail
• about 16% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• placing mice on a soft powdered chow diet results in bone length similar to wild-type
• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age
• placing mice on a soft powdered chow diet results in bone length similar to wild-type

craniofacial
• on average the adult skull is about 7% shorter and 15% narrower than wild-type littermates
• progressive enamel defect resulting in a decreased mesial-distal area and the presence of a mandibular incisor interproximal space
• at 5 months, the incisal edge is abnormally worn and the enamel surface is deformed and cleft
• incisor canals are obliterated
• placing mice on a soft powdered chow diet reduced the severity of defects
• at 4 weeks of age fully erupted molar roots show signs of resorption
• at 4 weeks of age fully erupted molars display widening of the periodontal ligament
• at 3 months of age, high levels of inflammatory infiltrate, primarily consisting of neutrophils, are seen in the periodontal ligament
• presence of this infiltrate results in local conversion of the periodontal ligament to granulation tissue
• foreign particles, such as hair shafts, are seen in the periodontal ligament
• structural defects are detected by spectroscopy; however, calcium and phosphate content are not significantly different from wild-type
• backscatter scanning electron microscopic images indicate a hypermineralization of the dentin
• progressive incisor enamel defect that result in deformation of the entire facial enamel surface of the upper and lower incisors
• no defect is apparent before weaning
• initially the enamel shows a hypoplastic like condition with decreased translucence and a reduced incisor mesial-distal area
• by 5 months, a highly radiopaque deformed and cleft surface extends from the apex forward to the incisal edge
• also at 5 months the incisor enamel surface is thinner with an irregular and poorly defined structure
• on a powdered soft chow diet only mild clefting of the enamel is seen
• in adult mice, the enamel epithelium has a psuedostratified structure that appears to produce an amorphous matrix that covers the dentin and is ectopically present within the epithelium
• however, at 2 weeks of age the ameloblast layer appears similar to wild-type
• at 3 months of age radiographic signs of external root resorption are seen and a significant increase in osteoclast activity is seen in the periodontium

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
aggressive periodontitis DOID:1474 OMIM:170650
OMIM:608526
J:103753





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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory