Phenotypes associated with this allele

• Allele Symbol: Osr2^tm1Jian
• Allele Name: targeted mutation 1, Rulang Jiang
• Allele ID: MGI:3033240
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Osr2^tm1Jian/Osr2^tm1Jian	involves: 129S1/Sv	MGI:5003150
hm2	Osr2^tm1Jian/Osr2^tm1Jian	involves: 129S1/Sv * C57BL/6J	MGI:3514139
hm3	Osr2^tm1Jian/Osr2^tm1Jian	involves: 129S1/Sv * C57BL/6J * FVB/N	MGI:5013435
ht4	Osr2^tm1Jian/Osr2^tm4(Osr2*)Jian	involves: 129S1/Sv * C57BL/6J	MGI:3849040
ht5	Osr2^tm1Jian/Osr2^tm3(Osr1)Jian	involves: 129S1/Sv * C57BL/6J	MGI:3849037
cn6	Osr1^tm2Jian/Osr1^tm2Jian Osr2^tm1Jian/Osr2^tm1Jian Tg(Prrx1-cre)1Cjt/0	involves: 129S1/Sv * C57BL/6J * SJL/J	MGI:5003149
cx7	Osr2^tm1Jian/Osr2^tm1Jian Pax9^tm1.2(Osr2)Jian/Pax9^+	involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6J * FVB/N	MGI:5013437
cx8	Osr2^tm1Jian/Osr2^tm1Jian Pax9^tm1.1(Osr2)Jian/Pax9^+	involves: 129S1/Sv * C57BL/6J * FVB/N	MGI:5013438

Genotype
MGI:5003150

hm1

• Allelic Composition: Osr2^tm1Jian/Osr2^tm1Jian
• Genetic Background: involves: 129S1/Sv

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

craniofacial

abnormal tooth development ( J:173121 )

• at E15.5, mice exhibit supernumerary tooth bud with condensed mesenchyme underneath, lingual to each of the mandibular first molar tooth germs, compared with wild-type mice

supernumerary teeth ( J:173121 )

cleft secondary palate ( J:173121 )

• in all mice

skeleton

abnormal tooth development ( J:173121 )

• at E15.5, mice exhibit supernumerary tooth bud with condensed mesenchyme underneath, lingual to each of the mandibular first molar tooth germs, compared with wild-type mice

supernumerary teeth ( J:173121 )

fused synovial joints ( J:171478 )

• mice exhibit abnormally fused tarsal elements in the ankle region compared with wild-type mice

• mice exhibit fusion of the intermediate cuneiform and navicular bones unlike in wild-type mice

• however, other limb joints are normal

digestive/alimentary system

cleft secondary palate ( J:173121 )

• in all mice

growth/size/body

abnormal tooth development ( J:173121 )

• at E15.5, mice exhibit supernumerary tooth bud with condensed mesenchyme underneath, lingual to each of the mandibular first molar tooth germs, compared with wild-type mice

supernumerary teeth ( J:173121 )

cleft secondary palate ( J:173121 )

• in all mice

Genotype
MGI:3514139

hm2

• Allelic Composition: Osr2^tm1Jian/Osr2^tm1Jian
• Genetic Background: involves: 129S1/Sv * C57BL/6J

mortality/aging

neonatal lethality ( J:94755 )

skeleton

supernumerary teeth ( J:149458 )

• supernumerary teeth lingual to the molars

craniofacial

supernumerary teeth ( J:149458 )

• supernumerary teeth lingual to the molars

abnormal palatal mesenchymal cell proliferation ( J:94755 )

• at E13.5, palatal mesenchyme cell proliferation is reduced by 37% in the medial halves of the downward growing palatal shelves but not in the lateral halves, resulting in retarded, mediolaterally symmetric palatal shelves at E14.5

palatal shelves fail to meet at midline ( J:94755 )

• palatal shelves are elevated but fail to contact each other at the midline at E15.5

• however, palatal outgrowth and initial downward palatal growth are normal

cleft secondary palate ( J:94755 )

• homozygous mutant palatal shelves are separated from each other at E15.5, resulting in bilateral cleft of the secondary palate at birth

delayed palatal shelf elevation ( J:149458 )

• palatal shelves appear retarded at E14.5 and are are still vertically oriented at E15.0

bilateral cleft palate ( J:94755 , J:149458 )

• bilateral cleft palate (J:149458)

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:94755 , J:149458 )

• the tympanic rings are thicker in mutants compared to wild-type mice (J:94755)

• thickened (J:149458)

decreased tympanic ring size ( J:149458 )

vision/eye

abnormal eye development ( J:149458 )

• delay in eyelid outgrowth and a reduction in cell proliferation in the upper and lower eyelid epithelium and mesenchymel at E13.5

• at E15.5 eyelids appear round and lack the periderm leading edges seen in wild-type controls

• by E18.5 a rudimentary periderm leading edge is present

failure of eyelid fusion ( J:149458 )

• eyelids are not fused at E18.5

eyelids open at birth ( J:94755 , J:149458 )

digestive/alimentary system

abnormal palatal mesenchymal cell proliferation ( J:94755 )

• at E13.5, palatal mesenchyme cell proliferation is reduced by 37% in the medial halves of the downward growing palatal shelves but not in the lateral halves, resulting in retarded, mediolaterally symmetric palatal shelves at E14.5

palatal shelves fail to meet at midline ( J:94755 )

• palatal shelves are elevated but fail to contact each other at the midline at E15.5

• however, palatal outgrowth and initial downward palatal growth are normal

cleft secondary palate ( J:94755 )

• homozygous mutant palatal shelves are separated from each other at E15.5, resulting in bilateral cleft of the secondary palate at birth

delayed palatal shelf elevation ( J:149458 )

• palatal shelves appear retarded at E14.5 and are are still vertically oriented at E15.0

bilateral cleft palate ( J:94755 , J:149458 )

• bilateral cleft palate (J:149458)

growth/size/body

supernumerary teeth ( J:149458 )

• supernumerary teeth lingual to the molars

abnormal palatal mesenchymal cell proliferation ( J:94755 )

• at E13.5, palatal mesenchyme cell proliferation is reduced by 37% in the medial halves of the downward growing palatal shelves but not in the lateral halves, resulting in retarded, mediolaterally symmetric palatal shelves at E14.5

palatal shelves fail to meet at midline ( J:94755 )

• palatal shelves are elevated but fail to contact each other at the midline at E15.5

• however, palatal outgrowth and initial downward palatal growth are normal

cleft secondary palate ( J:94755 )

• homozygous mutant palatal shelves are separated from each other at E15.5, resulting in bilateral cleft of the secondary palate at birth

delayed palatal shelf elevation ( J:149458 )

• palatal shelves appear retarded at E14.5 and are are still vertically oriented at E15.0

bilateral cleft palate ( J:94755 , J:149458 )

• bilateral cleft palate (J:149458)

Genotype
MGI:5013435

hm3

• Allelic Composition: Osr2^tm1Jian/Osr2^tm1Jian
• Genetic Background: involves: 129S1/Sv * C57BL/6J * FVB/N

craniofacial

abnormal lower incisor morphology ( J:173121 )

• mice exhibit malformed mandibular incisors compared with wild-type mice

skeleton

abnormal lower incisor morphology ( J:173121 )

• mice exhibit malformed mandibular incisors compared with wild-type mice

growth/size/body

abnormal lower incisor morphology ( J:173121 )

• mice exhibit malformed mandibular incisors compared with wild-type mice

Genotype
MGI:3849040

ht4

• Allelic Composition: Osr2^tm1Jian/Osr2^{tm4(Osr2*)Jian}
• Genetic Background: involves: 129S1/Sv * C57BL/6J

vision/eye

eyelids open at birth ( J:149458 )

craniofacial

craniofacial phenotype ( J:149458 )

N • normal palate and tooth development unlike in mice homozygous for Osr2^tm1Jian

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:149458 )

N • normal tympanic ring morphology unlike in mice homozygous for Osr2^tm1Jian

Genotype
MGI:3849037

ht5

• Allelic Composition: Osr2^tm1Jian/Osr2^{tm3(Osr1)Jian}
• Genetic Background: involves: 129S1/Sv * C57BL/6J

vision/eye

eyelids open at birth ( J:149458 )

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:149458 )

• slightly thickened but normal sized

craniofacial

craniofacial phenotype ( J:149458 )

N • normal palate and tooth development unlike in mice homozygous for Osr2^tm1Jian

Genotype
MGI:5003149

cn6

• Allelic Composition: Osr1^tm2Jian/Osr1^tm2Jian; Osr2^tm1Jian/Osr2^tm1Jian; Tg(Prrx1-cre)1Cjt/0
• Genetic Background: involves: 129S1/Sv * C57BL/6J * SJL/J

skeleton

abnormal joint morphology ( J:171478 )

• mice exhibit disorganized interphalangeal and metacarpophalangeal joints compared with wild-type mice

• mice exhibit defects in joint cell differentiation compared to in wild-type mice

fused synovial joints ( J:171478 )

• wrist and ankle bones are abnormally shaped compared to in wild-type mice

• the humerus is fused to the ulna and radius unlike in wild-type mice

• the tibia is fused to the fibula at both the proximal and distal ends unlike in wild-type mice

• mice exhibit fusion of the intermediate cuneiform and navicular bones and fusion of the cuboidal and calcaneus bones unlike in wild-type mice

abnormal bone mineralization ( J:171478 )

• mice exhibit delayed bone mineralization of the digital bones compared with wild-type mice

vision/eye

failure of eyelid fusion ( J:171478 )

Genotype
MGI:5013437

cx7

• Allelic Composition: Osr2^tm1Jian/Osr2^tm1Jian; Pax9^{tm1.2(Osr2)Jian}/Pax9⁺
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * C57BL/6J * FVB/N

craniofacial

craniofacial phenotype ( J:173121 )

N • mice exhibit a normal number of teeth

cleft secondary palate ( J:173121 )

• in some mice

digestive/alimentary system

cleft secondary palate ( J:173121 )

• in some mice

growth/size/body

cleft secondary palate ( J:173121 )

• in some mice

Genotype
MGI:5013438

cx8

• Allelic Composition: Osr2^tm1Jian/Osr2^tm1Jian; Pax9^{tm1.1(Osr2)Jian}/Pax9⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J * FVB/N

craniofacial

abnormal tooth development ( J:173121 )

• mice exhibit supernumerary tooth germs lingual to the maxillary molar compared with wild-type mice

• at E15.5 and E16.5, the oral epithelium lingual to the mandibular first molar tooth germs is thickened compared to in control mice

• however, the number of teeth in the mandible is normal

cleft secondary palate ( J:173121 )

• in all mice

digestive/alimentary system

cleft secondary palate ( J:173121 )

• in all mice

growth/size/body

abnormal tooth development ( J:173121 )

• mice exhibit supernumerary tooth germs lingual to the maxillary molar compared with wild-type mice

• at E15.5 and E16.5, the oral epithelium lingual to the mandibular first molar tooth germs is thickened compared to in control mice

• however, the number of teeth in the mandible is normal

cleft secondary palate ( J:173121 )

• in all mice

skeleton

abnormal tooth development ( J:173121 )

• mice exhibit supernumerary tooth germs lingual to the maxillary molar compared with wild-type mice

• at E15.5 and E16.5, the oral epithelium lingual to the mandibular first molar tooth germs is thickened compared to in control mice

• however, the number of teeth in the mandible is normal