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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pax9tm1Hpt
targeted mutation 1, Heiko Peters
MGI:3612401
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pax9tm1Hpt/Pax9tm1Hpt involves: 129S2/SvPas * C57BL/6 MGI:3612954
ht2
Pax9tm1Hpt/Pax9tm1Rbal involves: 129 * C57BL/6 * CD-1 MGI:3612955


Genotype
MGI:3612954
hm1
Allelic
Composition
Pax9tm1Hpt/Pax9tm1Hpt
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax9tm1Hpt mutation (0 available); any Pax9 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• in 13% of mice all teeth are present but the lower incisors and third molars are hypoplastic
• in 35% of mice tooth defects differ between the right and left halves of the lower jaw
• in most cases the lower incisors are absent
• the lower first molars show significant attrition and formation of reparative and reactionary dentin
• the upper and lower third molars are unilaterally or bilaterally absent
• at E13.5 the size of the mesenchymal cell condensations underlying the posterior part of the dental lamina is reduced, but the dental papilla of the first molar has formed
• lower third molars and incisors may fail to erupt
• a mixture of reactionary and reparative dentin seen in molars
• in 35% of mice up to 3 teeth are absent (hypodontia) and in 52% of mice 4 or more teeth are absent (oligodontia); however the secondary palate is intact and digit duplication is not seen

craniofacial
• in 35% of mice tooth defects differ between the right and left halves of the lower jaw
• in 13% of mice all teeth are present but the lower incisors and third molars are hypoplastic
• in most cases the lower incisors are absent
• the lower first molars show significant attrition and formation of reparative and reactionary dentin
• the upper and lower third molars are unilaterally or bilaterally absent
• at E13.5 the size of the mesenchymal cell condensations underlying the posterior part of the dental lamina is reduced, but the dental papilla of the first molar has formed
• lower third molars and incisors may fail to erupt
• a mixture of reactionary and reparative dentin seen in molars
• in 35% of mice up to 3 teeth are absent (hypodontia) and in 52% of mice 4 or more teeth are absent (oligodontia); however the secondary palate is intact and digit duplication is not seen

endocrine/exocrine glands
N
• thymus morphology is normal and no signs of defective parathyroid or ultimobranchial body function (as shown by normal calcium and phosphate homeostasis) are seen

growth/size/body
• in 13% of mice all teeth are present but the lower incisors and third molars are hypoplastic
• in 35% of mice tooth defects differ between the right and left halves of the lower jaw
• in most cases the lower incisors are absent
• the lower first molars show significant attrition and formation of reparative and reactionary dentin
• the upper and lower third molars are unilaterally or bilaterally absent
• at E13.5 the size of the mesenchymal cell condensations underlying the posterior part of the dental lamina is reduced, but the dental papilla of the first molar has formed
• lower third molars and incisors may fail to erupt
• a mixture of reactionary and reparative dentin seen in molars
• in 35% of mice up to 3 teeth are absent (hypodontia) and in 52% of mice 4 or more teeth are absent (oligodontia); however the secondary palate is intact and digit duplication is not seen

Mouse Models of Human Disease
OMIM ID Ref(s)
Tooth Agenesis, Selective, 3; STHAG3 604625 J:104121




Genotype
MGI:3612955
ht2
Allelic
Composition
Pax9tm1Hpt/Pax9tm1Rbal
Genetic
Background
involves: 129 * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax9tm1Hpt mutation (0 available); any Pax9 mutation (6 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• all mice lack lower incisors
• the lower first molars show significant attrition and formation of reparative dentin
• the upper third and lower second and third molars are unilaterally or bilaterally absent
• at E13.5 the size of the mesenchymal cell condensations underlying the posterior part of the dental lamina is reduced, but the dental papilla of the first molar has formed
• in the upper incisors ameloblasts are present at 2 months of age but absent by 5 months
• in the upper incisors ameloblasts fail to elongate and produce only a thin layer of pre-enamel
• at P0 all third molars are arrested prior to the bud stage and the lower second molars are arrested at the bud stage
• at P0 the lower first molars have reached the bell stage but lack polarization and alignment of the ameloblasts and odontoblasts
• at P0 the upper first and second molars are mostly growth retarded
• lower third molars and incisors fail to erupt and other teeth in the lower jaw may also fail to erupt
• irregular dentin formation is indicated by the presence of 'contour lines of Owen'
• the upper incisors lack enamel; however enamel formation in the molars is normal
• more severe tooth loss than in Pax9tm1Hpt homozygotes with all mice lacking at least 4 teeth (oligodontia) and some lacking all lower teeth

mortality/aging
• underrepresented at weaning

craniofacial
• all mice lack lower incisors
• the lower first molars show significant attrition and formation of reparative dentin
• the upper third and lower second and third molars are unilaterally or bilaterally absent
• at E13.5 the size of the mesenchymal cell condensations underlying the posterior part of the dental lamina is reduced, but the dental papilla of the first molar has formed
• in the upper incisors ameloblasts are present at 2 months of age but absent by 5 months
• in the upper incisors ameloblasts fail to elongate and produce only a thin layer of pre-enamel
• at P0 all third molars are arrested prior to the bud stage and the lower second molars are arrested at the bud stage
• at P0 the lower first molars have reached the bell stage but lack polarization and alignment of the ameloblasts and odontoblasts
• at P0 the upper first and second molars are mostly growth retarded
• lower third molars and incisors fail to erupt and other teeth in the lower jaw may also fail to erupt
• irregular dentin formation is indicated by the presence of 'contour lines of Owen'
• the upper incisors lack enamel; however enamel formation in the molars is normal
• more severe tooth loss than in Pax9tm1Hpt homozygotes with all mice lacking at least 4 teeth (oligodontia) and some lacking all lower teeth

growth/size/body
• all mice lack lower incisors
• the lower first molars show significant attrition and formation of reparative dentin
• the upper third and lower second and third molars are unilaterally or bilaterally absent
• at E13.5 the size of the mesenchymal cell condensations underlying the posterior part of the dental lamina is reduced, but the dental papilla of the first molar has formed
• in the upper incisors ameloblasts are present at 2 months of age but absent by 5 months
• in the upper incisors ameloblasts fail to elongate and produce only a thin layer of pre-enamel
• at P0 all third molars are arrested prior to the bud stage and the lower second molars are arrested at the bud stage
• at P0 the lower first molars have reached the bell stage but lack polarization and alignment of the ameloblasts and odontoblasts
• at P0 the upper first and second molars are mostly growth retarded
• lower third molars and incisors fail to erupt and other teeth in the lower jaw may also fail to erupt
• irregular dentin formation is indicated by the presence of 'contour lines of Owen'
• the upper incisors lack enamel; however enamel formation in the molars is normal
• more severe tooth loss than in Pax9tm1Hpt homozygotes with all mice lacking at least 4 teeth (oligodontia) and some lacking all lower teeth

endocrine/exocrine glands
N
• thymus morphology is normal and no signs of defective parathyroid or ultimobranchial body function (as shown by normal calcium and phosphate homeostasis) are seen

Mouse Models of Human Disease
OMIM ID Ref(s)
Tooth Agenesis, Selective, 3; STHAG3 604625 J:104121





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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory