Phenotypes Associated with This Genotype

Genotype
MGI:3612954

• 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