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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(Col2a1-PTHR1*H223R)AHju
transgene insertion A, Harald Juppner
MGI:3584013
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Zfp521tm1Ngc/Zfp521tm1Ngc
Tg(Col2a1-cre)#Amc/0
Tg(Col2a1-PTHR1*H223R)AHju/0
involves: C57BL/6 MGI:5294939
cx2
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHR1*H223R)AHju/Tg(Col2a1-PTHR1*H223R)AHju
involves: 129S2/SvPas * C57BL/6 MGI:3584031
cx3
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-GAL4)1Amc/0
Tg(Col2a1-PTHR1*H223R)AHju/?
Tg(UAS-IHH)1Amc/0
involves: 129S2/SvPas * C57BL/6 MGI:3584352
cx4
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHR1*H223R)AHju/0
involves: 129S2/SvPas * C57BL/6 MGI:3717204
cx5
Pth1rtm1Hmk/Pth1rtm3Hmk
Tg(Col2a1-PTHR1*H223R)AHju/?
involves: 129S4/SvJae * C57BL/6 MGI:3584046
tg6
Tg(Col2a1-PTHR1*H223R)AHju/Tg(Col2a1-PTHR1*H223R)AHju involves: C57BL/6 MGI:3584016
tg7
Tg(Col2a1-PTHR1*H223R)AHju/0 involves: C57BL/6 MGI:3584025
tg8
Tg(Col2a1-PTHR1*H223R)AHju/? involves: C57BL/6 MGI:3584047


Genotype
MGI:5294939
cn1
Allelic
Composition
Zfp521tm1Ngc/Zfp521tm1Ngc
Tg(Col2a1-cre)#Amc/0
Tg(Col2a1-PTHR1*H223R)AHju/0
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(Col2a1-cre)#Amc mutation (0 available)
Tg(Col2a1-PTHR1*H223R)AHju mutation (0 available)
Zfp521tm1Ngc mutation (0 available); any Zfp521 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• mice exhibit normal bone length
• tibial growth plate of mutants is similar to wild-type, indicating rescue of the chondrocyte differentiation delay seen in single Tg(Col2a1-PTHR1*H223R)AHju/0 mice and improvement in endochondral bone formation




Genotype
MGI:3584031
cx2
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHR1*H223R)AHju/Tg(Col2a1-PTHR1*H223R)AHju
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (19 available)
Tg(Col2a1-PTHR1*H223R)AHju mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Histological tibiae sections of mice homozygous for Tg(Col2a1-PTHR1*H223R)AHju, mice homozygous for Tg(Col2a1-PTHR1*H223R)AHju and Pthlhtm1Hmk and mice homozygous for Pthlhtm1Hmk

mortality/aging
• survive up to 2 months compared to death around birth in single Pthlh homozygous null mice

growth/size/body
• the odontoblast layer is disorganized
• number of ameloblasts is reduced
• tooth eruption is lacking even though tooth buds develop
• although the endochondral bone formation defect of Pthlh homozygous null mice is rescued, mutant mice are malnourished and grow less than controls

skeleton
• the odontoblast layer is disorganized
• number of ameloblasts is reduced
• tooth eruption is lacking even though tooth buds develop
• premature disappearance of the growth plates and their secondary ossification centers

craniofacial
• the odontoblast layer is disorganized
• number of ameloblasts is reduced
• tooth eruption is lacking even though tooth buds develop




Genotype
MGI:3584352
cx3
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-GAL4)1Amc/0
Tg(Col2a1-PTHR1*H223R)AHju/?
Tg(UAS-IHH)1Amc/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (19 available)
Tg(Col2a1-GAL4)1Amc mutation (0 available)
Tg(Col2a1-PTHR1*H223R)AHju mutation (0 available)
Tg(UAS-IHH)1Amc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• increase in length of the columnar region compared to Pthlh mutant mice that express the constitutively active PTHR1 but do not overexpress IHH




Genotype
MGI:3717204
cx4
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHR1*H223R)AHju/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (19 available)
Tg(Col2a1-PTHR1*H223R)AHju mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Alizarin red S stained skeletal images of hemizygous and homozygous Tg(Col2a1-PTHR1*H223R)AHju and Pthlhtm1Hmk/Pthlhtm1Hmk mice

mortality/aging
• postnatal survival is prolonged for up to 2 months compared to death around birth in single Pthlh homozygous null mice

skeleton
N
• at birth or before birth, mutant skeletons appear normal and do not exhibit premature or abnormal mineralization, indicating rescue by the transgene
• growth plate of the distal tibia at E17.5 shows relatively normal appearance except for mild shortening of the columnar region and delayed blood vessel invasion




Genotype
MGI:3584046
cx5
Allelic
Composition
Pth1rtm1Hmk/Pth1rtm3Hmk
Tg(Col2a1-PTHR1*H223R)AHju/?
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (29 available)
Pth1rtm3Hmk mutation (0 available); any Pth1r mutation (29 available)
Tg(Col2a1-PTHR1*H223R)AHju mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• expansion of fully differentiated hypertrophic chondrocytes in tibia




Genotype
MGI:3584016
tg6
Allelic
Composition
Tg(Col2a1-PTHR1*H223R)AHju/Tg(Col2a1-PTHR1*H223R)AHju
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal images of wild-type and Tg(Col2a1-PTHR1*H223R)AHju/Tg(Col2a1-PTHR1*H223R)AHju mice

skeleton
• ossification centers of vertebrae are reduced in size
• at birth, show reduced or absent mineralization of many elements that develop by endochondral bone formation such as the supraoccipital bone, sternum, ischium and pubic bone
• sternebrae of newborns have no blood vessel invasion and almost no hypertrophic chondrocytes and the middle part of tibiae are still occupied by cartilage at E17.5




Genotype
MGI:3584025
tg7
Allelic
Composition
Tg(Col2a1-PTHR1*H223R)AHju/0
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype

Histological sternum sections of wild-type, and mice hemizygous and homozygous for Tg(Col2a1-PTHR1*H223R)AHju

skeleton
• decrease in the number of hypertrophic chondrocytes
• ossification centers of vertebrae are reduced in size, however less pronounced than in homozygous transgenic mice
• metaphyseal chondrodysplasia
• at birth, show reduced or absent mineralization of many elements that develop by endochondral bone formation such as the supraoccipital bone, sternum, ischium and pubic bone, however, less pronounced than in homozygous transgenic mice
• impaired endochondral ossification, with extended growth plate length and absence of a clear secondary ossification center
• sternebrae of newborns have no blood vessel invasion and the middle part of tibiae are still occupied by cartilage at E17.5, however less pronounced than in homozygous transgenic mice
• delay in chondrocyte differentiation
• decease in chondrocyte apoptosis




Genotype
MGI:3584047
tg8
Allelic
Composition
Tg(Col2a1-PTHR1*H223R)AHju/?
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• expansion of fully differentiated hypertrophic chondrocytes in tibia





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory