Phenotypes associated with this allele

• Allele Symbol: Dspp^tm1Kul
• Allele Name: targeted mutation 1, Ashok B Kulkarni
• Allele ID: MGI:2653208
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dspp^tm1Kul/Dspp^tm1Kul	B6;129-Dspp^tm1Kul/Mmnc	MGI:5911481
hm2	Dspp^tm1Kul/Dspp^tm1Kul	involves: 129/Sv * C57BL/6	MGI:2673970

Genotype
MGI:5911481

hm1

• Allelic Composition: Dspp^tm1Kul/Dspp^tm1Kul
• Genetic Background: B6;129-Dspp^tm1Kul/Mmnc

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

craniofacial

abnormal periodontium morphology ( J:241990 )

• severe alveolar bone loss with infiltration of inflammatory cells and the detachment of the junctional epithelium indicating periodontal disease development

• widening of the periodontal space in the apical region of the molars

abnormal alveolar process morphology ( J:241990 )

• the alveolar bone appears more porous interdentally in the mandibular molar region at 3 months of age

• decrease in the ratio of alveolar bone volume to total volume

alveolar process atrophy ( J:241990 )

• alveolar bone loss in the mandibular molar furcation and in the interdental region at 3 months of age that progresses with age

abnormal periodontal ligament morphology ( J:241990 )

• disruption/detachment of the periodontal ligaments

abnormal cementum morphology ( J:241990 )

• mice show little or no cementum with a loss of cementum in the mandibular 1st molar and incisor region of 3 month old mice

abnormal junctional epithelium morphology ( J:241990 )

• detachment of the periodontal ligaments leads to the apical migration of the junctional epithelium almost to the level of the alveolar bone crest in the interdental region between the 1st and 2nd mandibular molars and the formation of periodontal pockets

detached junctional epithelium ( J:241990 )

• detachment of the junctional epithelium

periodontal pocket ( J:241990 )

• formation of periodontal pockets

digestive/alimentary system

abnormal junctional epithelium morphology ( J:241990 )

• detachment of the periodontal ligaments leads to the apical migration of the junctional epithelium almost to the level of the alveolar bone crest in the interdental region between the 1st and 2nd mandibular molars and the formation of periodontal pockets

detached junctional epithelium ( J:241990 )

• detachment of the junctional epithelium

growth/size/body

abnormal periodontium morphology ( J:241990 )

• severe alveolar bone loss with infiltration of inflammatory cells and the detachment of the junctional epithelium indicating periodontal disease development

• widening of the periodontal space in the apical region of the molars

abnormal alveolar process morphology ( J:241990 )

• the alveolar bone appears more porous interdentally in the mandibular molar region at 3 months of age

• decrease in the ratio of alveolar bone volume to total volume

alveolar process atrophy ( J:241990 )

• alveolar bone loss in the mandibular molar furcation and in the interdental region at 3 months of age that progresses with age

abnormal periodontal ligament morphology ( J:241990 )

• disruption/detachment of the periodontal ligaments

abnormal cementum morphology ( J:241990 )

• mice show little or no cementum with a loss of cementum in the mandibular 1st molar and incisor region of 3 month old mice

abnormal junctional epithelium morphology ( J:241990 )

• detachment of the periodontal ligaments leads to the apical migration of the junctional epithelium almost to the level of the alveolar bone crest in the interdental region between the 1st and 2nd mandibular molars and the formation of periodontal pockets

detached junctional epithelium ( J:241990 )

• detachment of the junctional epithelium

periodontal pocket ( J:241990 )

• formation of periodontal pockets

immune system

periodontium inflammation ( J:241990 )

• infiltration of inflammatory cells is seen in the periodontal ligaments with severe alveolar bone loss

skeleton

abnormal alveolar process morphology ( J:241990 )

• the alveolar bone appears more porous interdentally in the mandibular molar region at 3 months of age

• decrease in the ratio of alveolar bone volume to total volume

alveolar process atrophy ( J:241990 )

• alveolar bone loss in the mandibular molar furcation and in the interdental region at 3 months of age that progresses with age

abnormal periodontal ligament morphology ( J:241990 )

• disruption/detachment of the periodontal ligaments

abnormal cementum morphology ( J:241990 )

• mice show little or no cementum with a loss of cementum in the mandibular 1st molar and incisor region of 3 month old mice

abnormal osteocyte canaliculus morphology ( J:241990 )

• canaliculi are disorganized and fewer in number

• canaliculi have reduced extension into the surrounding bone

abnormal osteocyte lacuna morphology ( J:241990 )

• the lacunae of osteocytes appear large and irregularly distributed with disorganized canaliculi that are fewer in number

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
periodontal disease		DOID:3388		J:241990

Genotype
MGI:2673970

hm2

• Allelic Composition: Dspp^tm1Kul/Dspp^tm1Kul
• Genetic Background: involves: 129/Sv * C57BL/6

Tooth abnormalities in Dspp^tm1Kul/Dspp^tm1Kul mice

cellular

increased kidney apoptosis ( J:113417 )

• mutant embryos exhibited a larger proportion of cells undergoing apoptosis in the kidney than controls at E13.5

craniofacial

alveolar process atrophy ( J:84378 )

• alveolar bone resorption

abnormal tooth morphology ( J:84378 )

• no tooth phenotype until 2-3 months of age

abnormal dental pulp cavity morphology ( J:84378 )

• pulp cavity enlarged

• pulp cavity exposure begins around 2 months (not in incisors)

• leads to discoloration and degeneration

• leads to roots shortened

• tooth crown worn down to gingiva and alveolar bone resorption

• pulp degeneration in older mice

abnormal dentin morphology ( J:84378 )

• globular dentin with extensive interglobular regions seen in incisors

• collagenous network lining dentinal tubules frequently lacking

• well organized intertubular dentin absent

abnormal dentin mineralization ( J:84378 )

• irregular mineralization due to abnormal calcospherite coalescence

• high levels of biglycan and decorin interfere with mineralization

abnormal predentin morphology ( J:84378 )

• increased distribution and levels of proteoglycans in predentin

• increased predentin and irregular border with dentin

brittle teeth ( J:84378 )

• occasionally the incisors appear broken in older mice

renal/urinary system

increased kidney apoptosis ( J:113417 )

• mutant embryos exhibited a larger proportion of cells undergoing apoptosis in the kidney than controls at E13.5

abnormal kidney development ( J:113417 )

abnormal metanephric ureteric bud development ( J:113417 )

• fewer ureteric bud branches at E13.5

small metanephros ( J:113417 )

• delay in the maturation of the nephrons is reflected by overall smaller size of the metanephros at E13.5

abnormal nephron morphogenesis ( J:113417 )

• delayed maturation of the nephron elements at E13.5

• less polarized epithelial layers in the nephrons at E13.5

abnormal S-shaped body morphology ( J:113417 )

• malformed and fewer Sshaped bodies in the mutant mouse embryonic kidney at E13.5

skeleton

alveolar process atrophy ( J:84378 )

• alveolar bone resorption

abnormal tooth morphology ( J:84378 )

• no tooth phenotype until 2-3 months of age

abnormal dental pulp cavity morphology ( J:84378 )

• pulp cavity enlarged

• pulp cavity exposure begins around 2 months (not in incisors)

• leads to discoloration and degeneration

• leads to roots shortened

• tooth crown worn down to gingiva and alveolar bone resorption

• pulp degeneration in older mice

abnormal dentin morphology ( J:84378 )

• globular dentin with extensive interglobular regions seen in incisors

• collagenous network lining dentinal tubules frequently lacking

• well organized intertubular dentin absent

abnormal dentin mineralization ( J:84378 )

• irregular mineralization due to abnormal calcospherite coalescence

• high levels of biglycan and decorin interfere with mineralization

abnormal predentin morphology ( J:84378 )

• increased distribution and levels of proteoglycans in predentin

• increased predentin and irregular border with dentin

brittle teeth ( J:84378 )

• occasionally the incisors appear broken in older mice

growth/size/body

alveolar process atrophy ( J:84378 )

• alveolar bone resorption

abnormal tooth morphology ( J:84378 )

• no tooth phenotype until 2-3 months of age

abnormal dental pulp cavity morphology ( J:84378 )

• pulp cavity enlarged

• pulp cavity exposure begins around 2 months (not in incisors)

• leads to discoloration and degeneration

• leads to roots shortened

• tooth crown worn down to gingiva and alveolar bone resorption

• pulp degeneration in older mice

abnormal dentin morphology ( J:84378 )

• globular dentin with extensive interglobular regions seen in incisors

• collagenous network lining dentinal tubules frequently lacking

• well organized intertubular dentin absent

abnormal dentin mineralization ( J:84378 )

• irregular mineralization due to abnormal calcospherite coalescence

• high levels of biglycan and decorin interfere with mineralization

abnormal predentin morphology ( J:84378 )

• increased distribution and levels of proteoglycans in predentin

• increased predentin and irregular border with dentin

brittle teeth ( J:84378 )

• occasionally the incisors appear broken in older mice

respiratory system

abnormal lung development ( J:113417 )

• at E13.5, lungs in the mutant mice have altered morphology of the ductlike structures

• lung duct epithelia are less stratified

• fewer cytoplasmic vesicles in lung ducts, suggesting a reduced secretory activity of the ductular epithelia

abnormal branching involved in alveolar duct morphogenesis ( J:113417 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dentinogenesis imperfecta		DOID:4154	OMIM:125490 OMIM:125500	J:84378