Phenotypes associated with this allele

• Allele Symbol: Pax9^tm1Hpt
• Allele Name: targeted mutation 1, Heiko Peters
• Allele ID: MGI:3612401
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax9^tm1Hpt/Pax9^tm1Hpt	involves: 129S2/SvPas * C57BL/6	MGI:3612954
ht2	Pax9^tm1Hpt/Pax9^tm1Rbal	involves: 129 * C57BL/6 * CD-1	MGI:3612955

Genotype
MGI:3612954

hm1

• Allelic Composition: Pax9^tm1Hpt/Pax9^tm1Hpt
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

craniofacial

abnormal tooth morphology ( J:104121 )

• 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

abnormal molar morphology ( J:104121 )

• the lower first molars show significant attrition and formation of reparative and reactionary dentin

abnormal tooth development ( J:104121 )

• 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

failure of tooth eruption ( J:104121 )

• lower third molars and incisors may fail to erupt

abnormal dentin morphology ( J:104121 )

• a mixture of reactionary and reparative dentin seen in molars

abnormal tooth attrition ( J:104121 )

• the lower first molars show significant attrition

decreased tooth number ( J:104121 )

• 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

absent lower incisors ( J:104121 )

• in most cases the lower incisors are absent

decreased molar number ( J:104121 )

• the upper and lower third molars are unilaterally or bilaterally absent

skeleton

abnormal tooth morphology ( J:104121 )

• 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

abnormal molar morphology ( J:104121 )

• the lower first molars show significant attrition and formation of reparative and reactionary dentin

abnormal tooth development ( J:104121 )

• 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

failure of tooth eruption ( J:104121 )

• lower third molars and incisors may fail to erupt

abnormal dentin morphology ( J:104121 )

• a mixture of reactionary and reparative dentin seen in molars

abnormal tooth attrition ( J:104121 )

• the lower first molars show significant attrition

decreased tooth number ( J:104121 )

• 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

absent lower incisors ( J:104121 )

• in most cases the lower incisors are absent

decreased molar number ( J:104121 )

• the upper and lower third molars are unilaterally or bilaterally absent

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:104121 )

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

abnormal tooth morphology ( J:104121 )

• 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

abnormal molar morphology ( J:104121 )

• the lower first molars show significant attrition and formation of reparative and reactionary dentin

abnormal tooth development ( J:104121 )

• 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

failure of tooth eruption ( J:104121 )

• lower third molars and incisors may fail to erupt

abnormal dentin morphology ( J:104121 )

• a mixture of reactionary and reparative dentin seen in molars

abnormal tooth attrition ( J:104121 )

• the lower first molars show significant attrition

decreased tooth number ( J:104121 )

• 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

absent lower incisors ( J:104121 )

• in most cases the lower incisors are absent

decreased molar number ( J:104121 )

• the upper and lower third molars are unilaterally or bilaterally absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
tooth agenesis		DOID:0050591	OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 OMIM:PS106600	J:104121

Genotype
MGI:3612955

ht2

• Allelic Composition: Pax9^tm1Hpt/Pax9^tm1Rbal
• Genetic Background: involves: 129 * C57BL/6 * CD-1

mortality/aging

postnatal lethality, incomplete penetrance ( J:104121 )

• underrepresented at weaning

craniofacial

abnormal molar morphology ( J:104121 )

• the lower first molars show significant attrition and formation of reparative dentin

abnormal tooth development ( J:104121 )

• 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

abnormal dentin development ( J:104121 )

• irregular dentin formation is indicated by the presence of 'contour lines of Owen'

abnormal ameloblast morphology ( J:104121 )

• 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

failure of tooth eruption ( J:104121 )

• lower third molars and incisors fail to erupt and other teeth in the lower jaw may also fail to erupt

arrest of tooth development ( J:104121 )

• 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

growth retardation of molars ( J:104121 )

• at P0 the upper first and second molars are mostly growth retarded

absent enamel ( J:104121 )

• the upper incisors lack enamel; however enamel formation in the molars is normal

abnormal tooth attrition ( J:104121 )

• the lower first molars show significant attrition

decreased tooth number ( J:104121 )

• more severe tooth loss than in Pax9^tm1Hpt homozygotes with all mice lacking at least 4 teeth (oligodontia) and some lacking all lower teeth

absent lower incisors ( J:104121 )

• all mice lack lower incisors

decreased molar number ( J:104121 )

• the upper third and lower second and third molars are unilaterally or bilaterally absent

growth/size/body

abnormal molar morphology ( J:104121 )

• the lower first molars show significant attrition and formation of reparative dentin

abnormal tooth development ( J:104121 )

• 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

abnormal dentin development ( J:104121 )

• irregular dentin formation is indicated by the presence of 'contour lines of Owen'

abnormal ameloblast morphology ( J:104121 )

• 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

failure of tooth eruption ( J:104121 )

• lower third molars and incisors fail to erupt and other teeth in the lower jaw may also fail to erupt

arrest of tooth development ( J:104121 )

• 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

growth retardation of molars ( J:104121 )

• at P0 the upper first and second molars are mostly growth retarded

absent enamel ( J:104121 )

• the upper incisors lack enamel; however enamel formation in the molars is normal

abnormal tooth attrition ( J:104121 )

• the lower first molars show significant attrition

decreased tooth number ( J:104121 )

• more severe tooth loss than in Pax9^tm1Hpt homozygotes with all mice lacking at least 4 teeth (oligodontia) and some lacking all lower teeth

absent lower incisors ( J:104121 )

• all mice lack lower incisors

decreased molar number ( J:104121 )

• the upper third and lower second and third molars are unilaterally or bilaterally absent

decreased body size ( J:104121 )

skeleton

abnormal molar morphology ( J:104121 )

• the lower first molars show significant attrition and formation of reparative dentin

abnormal tooth development ( J:104121 )

• 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

abnormal dentin development ( J:104121 )

• irregular dentin formation is indicated by the presence of 'contour lines of Owen'

abnormal ameloblast morphology ( J:104121 )

• 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

failure of tooth eruption ( J:104121 )

• lower third molars and incisors fail to erupt and other teeth in the lower jaw may also fail to erupt

arrest of tooth development ( J:104121 )

• 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

growth retardation of molars ( J:104121 )

• at P0 the upper first and second molars are mostly growth retarded

absent enamel ( J:104121 )

• the upper incisors lack enamel; however enamel formation in the molars is normal

abnormal tooth attrition ( J:104121 )

• the lower first molars show significant attrition

decreased tooth number ( J:104121 )

• more severe tooth loss than in Pax9^tm1Hpt homozygotes with all mice lacking at least 4 teeth (oligodontia) and some lacking all lower teeth

absent lower incisors ( J:104121 )

• all mice lack lower incisors

decreased molar number ( J:104121 )

• the upper third and lower second and third molars are unilaterally or bilaterally absent

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:104121 )

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		DO ID	OMIM ID(s)	Ref(s)
tooth agenesis		DOID:0050591	OMIM:106600 OMIM:150400 OMIM:313500 OMIM:602639 OMIM:604625 OMIM:610926 OMIM:PS106600	J:104121