About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pax9tm1Rbal
targeted mutation 1, R Balling
MGI:1857887
Summary 9 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pax9tm1Rbal/Pax9tm1Rbal involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3038511
hm2
Pax9tm1Rbal/Pax9tm1Rbal involves: 129S1/Sv * 129X1/SvJ * CD-1 MGI:7294557
ht3
Pax9tm1Hpt/Pax9tm1Rbal involves: 129 * C57BL/6 * CD-1 MGI:3612955
cn4
Isl1tm1(cre)Sev/Isl1+
Pax9tm1Rbal/Pax9tm1.1Hpt
involves: 129 * C57BL/6J MGI:7294563
cn5
Isl1tm1(cre)Sev/Isl1+
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9tm1.1Hpt
involves: 129 * CD-1 MGI:7294564
cx6
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9+
involves: 129 * CD-1 MGI:7294560
cx7
Msx1tm1Rilm/Msx1tm1Rilm
Pax9tm1Rbal/Pax9+
involves: 129 * CD-1 MGI:7294561
cx8
Msx1tm1Rilm/Msx1tm1Rilm
Pax9tm1Rbal/Pax9tm1Rbal
involves: 129 * CD-1 MGI:7294558
cx9
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9tm1Rbal
involves: 129 * CD-1 MGI:7294559


Genotype
MGI:3038511
hm1
Allelic
Composition
Pax9tm1Rbal/Pax9tm1Rbal
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• newborn homozygotes die within a few hours after birth

craniofacial
• at E14.0, mutant skulls show absence of the processus alaris
• at E14.0, the pterygoid process is severely malformed
• at E14.0, the alveolar ridges, which normally surround molars and incisors, are missing in both jaws
• at E13.5, the dental epithelia have invaginated to form epithelial buds, but the condensation of mesenchymal cells around the bud is less prominent, despite normal tooth development up to E12.5
• at E14.5, tooth development has reached the cap stage in wild-type embryos but never proceeds beyond the bud stage in mutant embryos
• newborn homozygotes exhibit absence of all teeth in both jaws
• at E13.5, the mandibular arch facing the palatal shelves is abnormally shaped
• at E14.0, the coronoid process, a dorsal extension of the mandible, is absent
• at E14.0, in a few cases (3/26), Reicherts cartilage is present but abnormally elongated and fused to the hyoid bone
• at E14.0, Reicherts cartilage is absent in most cases
• at E13.5, the shelves of mutant embryos revealed an abnormally broadened shape and lacked characteristic indentations at their ventrolateral sides
• at birth, all homozygotes exhibit a cleft secondary palate
• both maxillary and palatine regions are cleft, allowing direct view to the vomer and the presphenoid
• in some embryos, shelf elevation occurs only on one side

embryo
• at E11.5, development of the third and fourth pharyngeal pouches is retarded
• at E14.5, the third and fourth pouches fail to separate as epithelial buds to form the early rudiments of thymus, parathyroid, and ultimobranchial bodies
• in contrast, no developmental abnormalities are observed in the derivatives of the first and second pouches
• at E14.5, ultimobranchial bodies, which are derived from the fourth pouches, are absent

endocrine/exocrine glands
• at E14.5, ultimobranchial bodies, which are derived from the fourth pouches, are absent
• at E14.5, the primordia of parathyroid glands, which are derivatives of the third pharyngeal pouches, are absent
• at E14.5, the primordia of thymus, which are derivatives of the third pharyngeal pouches, are absent

hearing/vestibular/ear
• in most cases, the tympanic ring is greatly reduced in size at E14.0

immune system
• at E14.5, the primordia of thymus, which are derivatives of the third pharyngeal pouches, are absent

limbs/digits/tail
• in the lower leg of newborns, the musculus flexor digitorum, the flexor of the second to fifth toes, is absent
• however, no abnormalities are detectable in the musculature of forelimbs
• newborn homozygotes display preaxial digit duplications in both fore- and hindlimbs
• in the hindlimb, duplication of the first digit is associated with an enlarged cartilaginous area in the region of anterior metatarsals, which appear broadened and fused, while the ossification center of the first phalange is severely reduced in the first toe
• in the forelimb, an extra-formed digit is not separated from the thumb
• external limb malformations are first noted at ~E13.5, as a thickening of the anterior-proximal limb mesenchyme
• additional mesenchyme is formed in the anterior limb region, which later differentiates into supernumerary digits and ectopic cartilage in the middle hand or foot

muscle
• in the lower leg of newborns, the musculus flexor digitorum, the flexor of the second to fifth toes, is absent
• however, no abnormalities are detectable in the musculature of forelimbs
• one of the three tendons of the musculus flexor digitorum is absent

respiratory system
• in E14.0 laryngeal cartilages, both the greater and the lesser horns of the hyoid bone are malformed
• at E14.0, the thyroid cartilage appears broadened and lacks two processes normally connecting thyroid and cricoid cartilage
• newborn homozygotes display gasping, develop a bloated abdomen and die shortly thereafter

skeleton
• at E14.0, mutant skulls show absence of the processus alaris
• at E14.0, the pterygoid process is severely malformed
• at E14.0, the alveolar ridges, which normally surround molars and incisors, are missing in both jaws
• at E13.5, the dental epithelia have invaginated to form epithelial buds, but the condensation of mesenchymal cells around the bud is less prominent, despite normal tooth development up to E12.5
• at E14.5, tooth development has reached the cap stage in wild-type embryos but never proceeds beyond the bud stage in mutant embryos
• newborn homozygotes exhibit absence of all teeth in both jaws
• at E13.5, the mandibular arch facing the palatal shelves is abnormally shaped
• at E14.0, the coronoid process, a dorsal extension of the mandible, is absent
• at E14.0, in a few cases (3/26), Reicherts cartilage is present but abnormally elongated and fused to the hyoid bone
• at E14.0, Reicherts cartilage is absent in most cases
• one of the three tendons of the musculus flexor digitorum is absent
• in E14.0 laryngeal cartilages, both the greater and the lesser horns of the hyoid bone are malformed
• at E14.0, the thyroid cartilage appears broadened and lacks two processes normally connecting thyroid and cricoid cartilage

hematopoietic system
• at E14.5, the primordia of thymus, which are derivatives of the third pharyngeal pouches, are absent

digestive/alimentary system
• at E13.5, the shelves of mutant embryos revealed an abnormally broadened shape and lacked characteristic indentations at their ventrolateral sides
• at birth, all homozygotes exhibit a cleft secondary palate
• both maxillary and palatine regions are cleft, allowing direct view to the vomer and the presphenoid
• in some embryos, shelf elevation occurs only on one side

growth/size/body
• at E14.0, the alveolar ridges, which normally surround molars and incisors, are missing in both jaws
• at E13.5, the dental epithelia have invaginated to form epithelial buds, but the condensation of mesenchymal cells around the bud is less prominent, despite normal tooth development up to E12.5
• at E14.5, tooth development has reached the cap stage in wild-type embryos but never proceeds beyond the bud stage in mutant embryos
• newborn homozygotes exhibit absence of all teeth in both jaws
• at E13.5, the shelves of mutant embryos revealed an abnormally broadened shape and lacked characteristic indentations at their ventrolateral sides
• at birth, all homozygotes exhibit a cleft secondary palate
• both maxillary and palatine regions are cleft, allowing direct view to the vomer and the presphenoid
• in some embryos, shelf elevation occurs only on one side




Genotype
MGI:7294557
hm2
Allelic
Composition
Pax9tm1Rbal/Pax9tm1Rbal
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

nervous system
• decrease in the number of neural crest cells in the 3rd and 4th pharyngeal arches at E10.5

limbs/digits/tail
• in all embryos and neonates

cardiovascular system
• abnormally persistent at E12.5 in 78% of embryos
• bilaterally absent at E12.5
• abnormally persistent at E12.5 in 89% of embryos
• absent or aberrant at E12.5
• impaired or absent recruitment of smooth muscle cells at E11.5
• bilaterally absent at E12.5
• incidence of arch artery defects is similar to mice on a C57BL/6 background
• similar incidence compared to mice on a C57BL/6 background
• similar incidence compared to mice on a C57BL/6 background
• absent common carotid arteries in 27 of 47 mice
• Background Sensitivity: reduced incidence compared to mice on a C57BL/6 background, 16% compared to 79%
• similar incidence compared to mice on a C57BL/6 background

craniofacial
• abnormally persistent at E12.5 in 78% of embryos
• bilaterally absent at E12.5
• abnormally persistent at E12.5 in 89% of embryos
• absent or aberrant at E12.5
• impaired or absent recruitment of smooth muscle cells at E11.5
• bilaterally absent at E12.5
• ossification center is shorter
• angle between the greater and lesser horns is reduced
• in all embryos and neonates

endocrine/exocrine glands
• severely hypoplastic and absent from the normal position
• severely hypoplastic and absent from the normal position

digestive/alimentary system
• in all embryos and neonates

embryo
• abnormally persistent at E12.5 in 78% of embryos
• bilaterally absent at E12.5
• abnormally persistent at E12.5 in 89% of embryos
• absent or aberrant at E12.5
• impaired or absent recruitment of smooth muscle cells at E11.5
• bilaterally absent at E12.5
• decrease in the number of neural crest cells in the 3rd and 4th pharyngeal arches at E10.5

skeleton
• ossification center is shorter
• angle between the greater and lesser horns is reduced

respiratory system

hematopoietic system
• severely hypoplastic and absent from the normal position
• severely hypoplastic and absent from the normal position

growth/size/body
• in all embryos and neonates

immune system
• severely hypoplastic and absent from the normal position
• severely hypoplastic and absent from the normal position




Genotype
MGI:3612955
ht3
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 (17 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• underrepresented at weaning

craniofacial
• the lower first molars show significant attrition and formation of reparative dentin
• 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
• irregular dentin formation is indicated by the presence of 'contour lines of Owen'
• 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
• lower third molars and incisors fail to erupt and other teeth in the lower jaw may also fail to erupt
• 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
• the upper incisors lack enamel; however enamel formation in the molars is normal
• the lower first molars show significant attrition
• more severe tooth loss than in Pax9tm1Hpt homozygotes with all mice lacking at least 4 teeth (oligodontia) and some lacking all lower teeth
• all mice lack lower incisors
• the upper third and lower second and third molars are unilaterally or bilaterally absent

growth/size/body
• the lower first molars show significant attrition and formation of reparative dentin
• 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
• irregular dentin formation is indicated by the presence of 'contour lines of Owen'
• 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
• lower third molars and incisors fail to erupt and other teeth in the lower jaw may also fail to erupt
• 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
• the upper incisors lack enamel; however enamel formation in the molars is normal
• the lower first molars show significant attrition
• more severe tooth loss than in Pax9tm1Hpt homozygotes with all mice lacking at least 4 teeth (oligodontia) and some lacking all lower teeth
• all mice lack lower incisors
• the upper third and lower second and third molars are unilaterally or bilaterally absent

skeleton
• the lower first molars show significant attrition and formation of reparative dentin
• 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
• irregular dentin formation is indicated by the presence of 'contour lines of Owen'
• 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
• lower third molars and incisors fail to erupt and other teeth in the lower jaw may also fail to erupt
• 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
• the upper incisors lack enamel; however enamel formation in the molars is normal
• the lower first molars show significant attrition
• more severe tooth loss than in Pax9tm1Hpt homozygotes with all mice lacking at least 4 teeth (oligodontia) and some lacking all lower teeth
• all mice lack lower incisors
• the upper third and lower second and third molars are unilaterally or bilaterally absent

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




Genotype
MGI:7294563
cn4
Allelic
Composition
Isl1tm1(cre)Sev/Isl1+
Pax9tm1Rbal/Pax9tm1.1Hpt
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (36 available)
Pax9tm1.1Hpt mutation (0 available); any Pax9 mutation (17 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• absent common carotid arteries in 9 of 9 mice
• in 1 of 9 mice

craniofacial
N
• unlike in germline null mice, cleft palate is not seen

endocrine/exocrine glands
• hypoplastic and absent from the normal position
• hypoplastic and absent from the normal position

hematopoietic system
• hypoplastic and absent from the normal position
• hypoplastic and absent from the normal position

immune system
• hypoplastic and absent from the normal position
• hypoplastic and absent from the normal position

limbs/digits/tail




Genotype
MGI:7294564
cn5
Allelic
Composition
Isl1tm1(cre)Sev/Isl1+
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9tm1.1Hpt
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Isl1tm1(cre)Sev mutation (1 available); any Isl1 mutation (36 available)
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1.1Hpt mutation (0 available); any Pax9 mutation (17 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

skeleton
• ossification center is shorter
• angle between the greater and lesser horns is reduced

craniofacial
• unlike in germline null mice, cleft palate is not seen
• ossification center is shorter
• angle between the greater and lesser horns is reduced

limbs/digits/tail

cardiovascular system
• cervical origin in 2 of 8 neonates

respiratory system




Genotype
MGI:7294560
cx6
Allelic
Composition
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9+
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• absence of lower teeth

growth/size/body
• absence of lower teeth

skeleton
• absence of lower teeth




Genotype
MGI:7294561
cx7
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Pax9tm1Rbal/Pax9+
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial

digestive/alimentary system

growth/size/body




Genotype
MGI:7294558
cx8
Allelic
Composition
Msx1tm1Rilm/Msx1tm1Rilm
Pax9tm1Rbal/Pax9tm1Rbal
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• similar to mice homozygous for Pax9 alone
• two embryos have IAA-B and A-RSA
• two embryos have IAA-B and A-RSA
• only seen in a single mouse

limbs/digits/tail
N
• unlike mice homozygous for Pax9 mutation alone, pre-axial polydactyly is not seen

craniofacial
• similar to mice homozygous for Pax9 alone

embryo
• similar to mice homozygous for Pax9 alone




Genotype
MGI:7294559
cx9
Allelic
Composition
Msx1tm1Rilm/Msx1+
Pax9tm1Rbal/Pax9tm1Rbal
Genetic
Background
involves: 129 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Msx1tm1Rilm mutation (1 available); any Msx1 mutation (18 available)
Pax9tm1Rbal mutation (0 available); any Pax9 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

digestive/alimentary system

nervous system
• decrease in the number of neural crest cells in the 4th pharyngeal arches at E10.5

cardiovascular system
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5
• at E10.5
• decrease in the number of neural crest cells at E10.5
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 8 of 12 embryos at E12.5
• unlike in homozygous mice wild-type for Msx1 smooth muscle cell recruitment is not reduced
• at E9.5 but not at E10.5
• cervical origin of the aorta is increased compared to homozygous mice wild-type for Msx1
• significant reduction in retro-esophageal right subclavian artery and a significant increase in cervical origin compared to homozygous mice wild-type for Msx1
• significant reduction in the incidence of IAA-B compared to homozygous mice wild-type for Msx1
• reduction in the incidence of absent common carotid arteries compared to homozygous mice wild-type for Msx1 (24% compared to 57%)
• only seen in a single mouse

endocrine/exocrine glands
• severely hypoplastic and absent from the normal position
• severely hypoplastic and absent from the normal position

craniofacial
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5
• at E10.5
• decrease in the number of neural crest cells at E10.5
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 8 of 12 embryos at E12.5
• unlike in homozygous mice wild-type for Msx1 smooth muscle cell recruitment is not reduced
• at E9.5 but not at E10.5

embryo
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 7 of 12 embryos at E12.5
• at E10.5
• decrease in the number of neural crest cells at E10.5
• abnormally persistent at E12.5
• unlike in homozygous mice wild-type for Msx1 the arch is maintained in 8 of 12 embryos at E12.5
• unlike in homozygous mice wild-type for Msx1 smooth muscle cell recruitment is not reduced
• at E9.5 but not at E10.5
• decrease in the number of neural crest cells in the 4th pharyngeal arches at E10.5

growth/size/body

hematopoietic system
• severely hypoplastic and absent from the normal position
• severely hypoplastic and absent from the normal position

immune system
• severely hypoplastic and absent from the normal position
• severely hypoplastic and absent from the normal position

limbs/digits/tail





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
10/29/2024
MGI 6.24
The Jackson Laboratory