Phenotypes associated with this allele

• Allele Symbol: Pax9^tm1.1Hpt
• Allele Name: targeted mutation 1.1, Heiko Peters
• Allele ID: MGI:3723638
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pax9^tm1.1Hpt/Pax9^tm1.1Hpt	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3723639
cn2	Isl1^tm1(cre)Sev/Isl1^+ Pax9^tm1Rbal/Pax9^tm1.1Hpt	involves: 129 * C57BL/6J	MGI:7294563
cn3	Isl1^tm1(cre)Sev/Isl1^+ Msx1^tm1Rilm/Msx1^+ Pax9^tm1Rbal/Pax9^tm1.1Hpt	involves: 129 * CD-1	MGI:7294564
cn4	Pax9^tm1.1Hpt/Pax9^tm1.1Hpt Tg(Pgk1-cre)1Lni/?	involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL	MGI:3723640
cn5	Pax9^tm1.1Hpt/Pax9^tm1.1Hpt H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * C57BL/6 * CBA * SJL	MGI:3723641

Genotype
MGI:3723639

hm1

• Allelic Composition: Pax9^tm1.1Hpt/Pax9^tm1.1Hpt
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

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

normal phenotype

no abnormal phenotype detected ( J:125026 )

• mice are fertile and indistinguishable from wild-type

Genotype
MGI:7294563

cn2

• Allelic Composition: Isl1^tm1(cre)Sev/Isl1⁺; Pax9^tm1Rbal/Pax9^tm1.1Hpt
• Genetic Background: involves: 129 * C57BL/6J

cardiovascular system

aberrant origin of the right subclavian artery ( J:311535 )

interrupted aortic arch ( J:311535 )

abnormal common carotid artery morphology ( J:311535 )

• absent common carotid arteries in 9 of 9 mice

double outlet right ventricle ( J:311535 )

• in 5 of 9 mice

ventricular septal defect ( J:311535 )

• in 1 of 9 mice

craniofacial

craniofacial phenotype ( J:311535 )

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

endocrine/exocrine glands

thymus hypoplasia ( J:311535 )

• hypoplastic and absent from the normal position

ectopic thymus ( J:311535 )

• hypoplastic and absent from the normal position

hematopoietic system

thymus hypoplasia ( J:311535 )

• hypoplastic and absent from the normal position

ectopic thymus ( J:311535 )

• hypoplastic and absent from the normal position

immune system

thymus hypoplasia ( J:311535 )

• hypoplastic and absent from the normal position

ectopic thymus ( J:311535 )

• hypoplastic and absent from the normal position

limbs/digits/tail

preaxial polydactyly ( J:311535 )

Genotype
MGI:7294564

cn3

• Allelic Composition: Isl1^tm1(cre)Sev/Isl1⁺; Msx1^tm1Rilm/Msx1⁺; Pax9^tm1Rbal/Pax9^tm1.1Hpt
• Genetic Background: involves: 129 * CD-1

mortality/aging

neonatal lethality, complete penetrance ( J:311535 )

skeleton

abnormal hyoid bone morphology ( J:311535 )

• ossification center is shorter

• angle between the greater and lesser horns is reduced

abnormal hyoid bone greater horn morphology ( J:311535 )

• reduced in length

abnormal hyoid bone lesser horn morphology ( J:311535 )

• extends laterally

abnormal inferior horn of thyroid cartilage morphology ( J:311535 )

• significantly shorter

abnormal superior horn of thyroid cartilage morphology ( J:311535 )

• reduced to a stump

craniofacial

craniofacial phenotype ( J:311535 )

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

abnormal hyoid bone morphology ( J:311535 )

• ossification center is shorter

• angle between the greater and lesser horns is reduced

abnormal hyoid bone greater horn morphology ( J:311535 )

• reduced in length

abnormal hyoid bone lesser horn morphology ( J:311535 )

• extends laterally

limbs/digits/tail

preaxial polydactyly ( J:311535 )

cardiovascular system

aberrant origin of the right subclavian artery ( J:311535 )

• cervical origin in 2 of 8 neonates

respiratory system

abnormal inferior horn of thyroid cartilage morphology ( J:311535 )

• significantly shorter

abnormal superior horn of thyroid cartilage morphology ( J:311535 )

• reduced to a stump

Genotype
MGI:3723640

cn4

• Allelic Composition: Pax9^tm1.1Hpt/Pax9^tm1.1Hpt; Tg(Pgk1-cre)1Lni/?
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:125026 )

• mice die at birth

craniofacial

absent teeth ( J:125026 )

absent mandibular coronoid process ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

absent premaxilla ( J:125026 )

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

• mice are born with cleft secondary palate

endocrine/exocrine glands

absent parathyroid glands ( J:125026 )

abnormal thymus lobule morphology ( J:125026 )

• mice are born with missing thymic lobes

hearing/vestibular/ear

tympanic ring hypoplasia ( J:125026 )

• mice are born with a hypoplastic tympanic ring

limbs/digits/tail

polydactyly ( J:125026 )

• mice are born with preaxial digit duplication

hematopoietic system

abnormal thymus lobule morphology ( J:125026 )

• mice are born with missing thymic lobes

behavior/neurological

aphagia ( J:125026 )

• mice die with no evidence of feeding

skeleton

absent teeth ( J:125026 )

absent mandibular coronoid process ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

absent premaxilla ( J:125026 )

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

immune system

abnormal thymus lobule morphology ( J:125026 )

• mice are born with missing thymic lobes

digestive/alimentary system

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

• mice are born with cleft secondary palate

growth/size/body

absent teeth ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

• mice are born with cleft secondary palate

Genotype
MGI:3723641

cn5

• Allelic Composition: Pax9^tm1.1Hpt/Pax9^tm1.1Hpt; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:125026 )

• mice die at birth

craniofacial

absent alveolar process ( J:125026 )

arrest of tooth development ( J:125026 )

• tooth development is arrested at the bud stage

absent teeth ( J:125026 )

absent mandibular coronoid process ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

absent premaxilla ( J:125026 )

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

failure of palatal shelf elevation ( J:125026 )

behavior/neurological

aphagia ( J:125026 )

• mice die with no evidence of feeding

digestive/alimentary system

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

failure of palatal shelf elevation ( J:125026 )

skeleton

absent alveolar process ( J:125026 )

arrest of tooth development ( J:125026 )

• tooth development is arrested at the bud stage

absent teeth ( J:125026 )

absent mandibular coronoid process ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

absent premaxilla ( J:125026 )

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

growth/size/body

absent alveolar process ( J:125026 )

arrest of tooth development ( J:125026 )

• tooth development is arrested at the bud stage

absent teeth ( J:125026 )

abnormal maxillary shelf morphology ( J:125026 )

• the palatal processes of the maxilla is displaced laterally

abnormal palatine bone horizontal plate morphology ( J:125026 )

• the palatal processes of the palatine is displaced laterally

cleft secondary palate ( J:125026 )

failure of palatal shelf elevation ( J:125026 )