Phenotypes associated with this allele

• Allele Symbol: Postn^tm1Sjc
• Allele Name: targeted mutation 1, Simon J Conway
• Allele ID: MGI:3611751
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Postn^tm1Sjc/Postn^tm1Sjc	B6.Cg-Postn^tm1Sjc	MGI:5511052
hm2	Postn^tm1Sjc/Postn^tm1Sjc	involves: C57BL/6	MGI:3629331

Genotype
MGI:5511052

hm1

• Allelic Composition: Postn^tm1Sjc/Postn^tm1Sjc
• Genetic Background: B6.Cg-Postn^tm1Sjc

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

skeleton

abnormal alveolar process morphology ( J:200192 )

• 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

abnormal periodontal ligament morphology ( J:200192 )

• 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

abnormal enamel morphology ( J:200192 )

• mutants fed a soft diet exhibit alteration of the enamel that affects the incisor from the apex to the incisor edge

abnormal mandible morphology ( J:200192 )

• 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

increased osteoclast cell number ( J:200192 )

• 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

decreased bone mineral density ( J:200192 )

• 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

decreased bone mineral density of femur ( J:200192 )

• intact and ovariectomized females exhibit lower femur bone mineral density

decreased compact bone volume ( J:200192 )

• intact and ovariectomized females exhibit lower cortical bone microarchitecture

decreased trabecular bone volume ( J:200192 )

• intact and ovariectomized females exhibit lower trabecular bone microarchitecture

abnormal bone ossification ( J:200192 )

• 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

abnormal alveolar process morphology ( J:200192 )

• 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

abnormal periodontal ligament morphology ( J:200192 )

• 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

abnormal enamel morphology ( J:200192 )

• mutants fed a soft diet exhibit alteration of the enamel that affects the incisor from the apex to the incisor edge

abnormal mandible morphology ( J:200192 )

• 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

increased osteoclast cell number ( J:200192 )

• 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

increased osteoclast cell number ( J:200192 )

• 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

abnormal alveolar process morphology ( J:200192 )

• 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

abnormal periodontal ligament morphology ( J:200192 )

• 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

abnormal enamel morphology ( J:200192 )

• 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: Postn^tm1Sjc/Postn^tm1Sjc
• Genetic Background: involves: C57BL/6

mortality/aging

postnatal lethality, incomplete penetrance ( J:103753 )

• about 14% of pups die within 2 to 3 weeks of birth

growth/size/body

abnormal incisor morphology ( J:103753 )

• 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

abnormal molar root morphology ( J:103753 )

• at 4 weeks of age fully erupted molar roots show signs of resorption

abnormal periodontal ligament morphology ( J:103753 )

• 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

abnormal tooth hard tissue morphology ( J:103753 )

abnormal dentin morphology ( J:103753 )

• structural defects are detected by spectroscopy; however, calcium and phosphate content are not significantly different from wild-type

abnormal dentin mineralization ( J:103753 )

• backscatter scanning electron microscopic images indicate a hypermineralization of the dentin

abnormal enamel morphology ( J:103753 )

• 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

abnormal ameloblast morphology ( J:103753 )

• 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

decreased body size ( J:103753 )

• 12 week old mice are about 15 - 30% smaller than wild-type

decreased body weight ( J:103753 )

• 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

postnatal growth retardation ( J:103753 )

• growth rate declines around weaning

skeleton

small cranium ( J:103753 )

• on average the adult skull is about 7% shorter and 15% narrower than wild-type littermates

abnormal incisor morphology ( J:103753 )

• 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

abnormal molar root morphology ( J:103753 )

• at 4 weeks of age fully erupted molar roots show signs of resorption

abnormal periodontal ligament morphology ( J:103753 )

• 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

abnormal tooth hard tissue morphology ( J:103753 )

abnormal dentin morphology ( J:103753 )

• structural defects are detected by spectroscopy; however, calcium and phosphate content are not significantly different from wild-type

abnormal dentin mineralization ( J:103753 )

• backscatter scanning electron microscopic images indicate a hypermineralization of the dentin

abnormal enamel morphology ( J:103753 )

• 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

abnormal ameloblast morphology ( J:103753 )

• 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

abnormal long bone morphology ( J:103753 )

short humerus ( J:103753 )

• about 16% shorter than in wild-type littermates with fewer trabeculae at 4 months of age

short radius ( J:103753 )

• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age

short ulna ( J:103753 )

• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age

short femur ( J:103753 )

• 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

short tibia ( J:103753 )

• 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

small scapula ( J:103753 )

• about 23% smaller than in wild-type littermates at 4 months of age

abnormal rib morphology ( J:103753 )

• at 4 months of age ribs have smaller growth plates, and contain fewer trabeculae compared to wild-type littermates

short ribs ( J:103753 )

• 12% shorter

thin ribs ( J:103753 )

• 22% narrower in diameter

abnormal trabecular bone morphology ( J:103753 )

• trabeculae are reduced in the ribs and limb bones

• placing mice on a soft powdered chow diet grossly rescues the cancellous bone defects

abnormal epiphyseal plate morphology ( J:103753 )

• rib growth plates are smaller

abnormal tooth root resorption ( J:103753 )

• 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

cardiovascular system

abnormal heart valve morphology ( J:103753 )

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

muscle

muscle phenotype ( J:103753 )

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

reproductive system

small ovary ( J:103753 )

♀ • smaller, in proportion with overall reduction in body size

♀ • histology appears normal

small oviduct ( J:103753 )

♀ • smaller, in proportion with overall reduction in body size

♀ • histology appears normal

small uterus ( J:103753 )

♀ • smaller, in proportion with overall reduction in body size

♀ • however, histology appears normal and the proliferative phase occurs as normal

abnormal female reproductive system physiology ( J:103753 )

♀ • vaginal plugs abnormally persist for up to 3 days

absent estrous cycle ( J:103753 )

♀ • females fail to cycle; however, folliculogenesis appears intact

female infertility ( J:103753 )

♀ • despite plugs and the presence of 2- and 4-cell zygotes no implantation sites are detected at 6 to 10 days after plug detection

reduced female fertility ( J:103753 )

♀ • 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

periodontium inflammation ( J:103753 )

• 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

endocrine/exocrine gland phenotype ( J:103753 )

N • histology of the gonads, thyroid glands and pituitaries is normal

small ovary ( J:103753 )

♀ • smaller, in proportion with overall reduction in body size

♀ • histology appears normal

limbs/digits/tail

short humerus ( J:103753 )

• about 16% shorter than in wild-type littermates with fewer trabeculae at 4 months of age

short radius ( J:103753 )

• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age

short ulna ( J:103753 )

• about 11% shorter than in wild-type littermates with fewer trabeculae at 4 months of age

short femur ( J:103753 )

• 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

short tibia ( J:103753 )

• 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

small cranium ( J:103753 )

• on average the adult skull is about 7% shorter and 15% narrower than wild-type littermates

abnormal incisor morphology ( J:103753 )

• 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

abnormal molar root morphology ( J:103753 )

• at 4 weeks of age fully erupted molar roots show signs of resorption

abnormal periodontal ligament morphology ( J:103753 )

• 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

abnormal tooth hard tissue morphology ( J:103753 )

abnormal dentin morphology ( J:103753 )

• structural defects are detected by spectroscopy; however, calcium and phosphate content are not significantly different from wild-type

abnormal dentin mineralization ( J:103753 )

• backscatter scanning electron microscopic images indicate a hypermineralization of the dentin

abnormal enamel morphology ( J:103753 )

• 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

abnormal ameloblast morphology ( J:103753 )

• 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

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