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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pth1rtm1Hmk
targeted mutation 1, Henry M Kronenberg
MGI:2154519
Summary 12 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pth1rtm1Hmk/Pth1rtm1Hmk involves: 129X1/SvJ * Black Swiss * C57BL/6 MGI:3584246
hm2
Pth1rtm1Hmk/Pth1rtm1Hmk involves: 129X1/SvJ * C57BL/6 MGI:3584244
hm3
Pth1rtm1Hmk/Pth1rtm1Hmk involves: 129X1/SvJ * C57BL/6 * MF1 MGI:3584245
ht4
Pth1rtm1Hmk/Pth1rtm3Hmk involves: 129S4/SvJae * C57BL/6 MGI:3584042
cn5
Ihhtm1Amc/Ihh+
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB MGI:3584276
cn6
Ihhtm1Amc/Ihhtm2Amc
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB MGI:3584278
cn7
Pthlhtm1Hmk/Pthlh+
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB/N MGI:3584345
cn8
Pthlhtm1Hmk/Pthlhtm1Hmk
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB * SJL MGI:3584347
cn9
Ihhtm2Amc/Ihh+
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB/N MGI:3584277
cn10
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
involves: 129S4/SvJae * C57BL/6 * FVB MGI:3584275
cx11
Pthlhtm1Hmk/Pthlhtm1Hmk
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * SJL MGI:3584346
cx12
Pth1rtm1Hmk/Pth1rtm3Hmk
Tg(Col2a1-PTHR1*H223R)AHju/?
involves: 129S4/SvJae * C57BL/6 MGI:3584046


Genotype
MGI:3584246
hm1
Allelic
Composition
Pth1rtm1Hmk/Pth1rtm1Hmk
Genetic
Background
involves: 129X1/SvJ * Black Swiss * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice survive untill birth but die within a few minutes of respiratory failure
• Background Sensitivity: reduced number of live embryos at E18.5, with all dying within a few minutes after birth, indicating increased survival on the Black Swiss background

growth/size/body
• at E9.5 and E12.5, all organs are morphologically intact but smaller than normal
• reduced body size from at least E9.5 (J:61316)
• reduced fetal size at E18.5

embryo
• at E9.5 and E12.5, all organs are morphologically intact but smaller than normal
• reduced body size from at least E9.5 (J:61316)

skeleton
• synchondrosis between the basioccipital, exoccipital, and basisphenoid bones due to excessive mineralization
• exhibit narrowing of the foramen magnum
• reduction in the zone of proliferating cartilage in the growth plate of proximal tibia
• irregular and shorter columns of proliferating chondrocytes in the growth plate of proximal tibia
• shorter long bones
• synchondrosis between the basioccipital, exoccipital, and basisphenoid bones due to excessive mineralization
• hyaline cartilage at E18.5 is composed of hypertrophic chondrocytes surrounded by perichondrial bone
• mineralization of bones formed by endochondral replacement is accelerated

craniofacial
• synchondrosis between the basioccipital, exoccipital, and basisphenoid bones due to excessive mineralization
• exhibit narrowing of the foramen magnum

limbs/digits/tail

respiratory system
N
• at E18.5, mutant lungs show no differences in branching morphogenesis or cellular differentiation of the distal lung relative to wild-type controls
• although mRNA levels for aquaporin-5 (the type I cell-specific water channel) are reduced by 2.6-fold in E18.5 lungs, expression of other peripheral lung markers (including genes specific for alveolar type I and type II cells and fibroblasts) remains normal
• significantly reduced lung size at E18.5
• mice survive untill birth but die within a few minutes of respiratory failure
• after hysterotomy, mutant E18.5 fetuses fail to inflate their lungs

digestive/alimentary system




Genotype
MGI:3584244
hm2
Allelic
Composition
Pth1rtm1Hmk/Pth1rtm1Hmk
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: reduced number of live embryos at E12.5, with most dying by E14.5; some live to E18.5; survival is greater with backcross to MF1 or Black Swiss

growth/size/body
• smaller from at least E9.5

embryo
• smaller from at least E9.5




Genotype
MGI:3584245
hm3
Allelic
Composition
Pth1rtm1Hmk/Pth1rtm1Hmk
Genetic
Background
involves: 129X1/SvJ * C57BL/6 * MF1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: reduced number of live embryos at E18.5

growth/size/body

embryo




Genotype
MGI:3584042
ht4
Allelic
Composition
Pth1rtm1Hmk/Pth1rtm3Hmk
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 (15 available)
Pth1rtm3Hmk mutation (0 available); any Pth1r mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• begins around 7 days of age

limbs/digits/tail
• start to show limb deformities around 7 days of age
• slightly greater total length of tibiae

skeleton
• slightly greater total length of tibiae
• slightly smaller columnar and periarticular regions of growth plates and greater growth plates than in controls
• hypertrophic layer expansion in E17.5 tibial growth plates and prehypertrophic domain expansion due to an increase in early hypertrophic cells
• early chondrocyte differentiation is accelerated as indicated by increased numbers of proliferating hypertrophic chondrocytes and decreased numbers of proliferating columnar chondrocytes




Genotype
MGI:3584276
cn5
Allelic
Composition
Ihhtm1Amc/Ihh+
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (13 available)
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (15 available)
Tg(Bglap2-cre)1Kry mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• growth plate is expanded, however less than in compound heterozygous mice that contain Ihh




Genotype
MGI:3584278
cn6
Allelic
Composition
Ihhtm1Amc/Ihhtm2Amc
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
Genetic
Background
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm1Amc mutation (1 available); any Ihh mutation (13 available)
Ihhtm2Amc mutation (0 available); any Ihh mutation (13 available)
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (15 available)
Tg(Bglap2-cre)1Kry mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• ectopic hypertrophic differentiation in growth plates, however do not observe elongation of the columnar region




Genotype
MGI:3584345
cn7
Allelic
Composition
Pthlhtm1Hmk/Pthlh+
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (15 available)
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (15 available)
Tg(Bglap2-cre)1Kry mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• growth plate is shorted by about 8%




Genotype
MGI:3584347
cn8
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
Tg(Col2a1-PTHLH)1Ecw/0
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (15 available)
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (15 available)
Tg(Bglap2-cre)1Kry mutation (0 available)
Tg(Col2a1-PTHLH)1Ecw mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• increase in tibia length
• exhibit ectopically differentiated chondrocytes
• eutopic hypertrophic chondrocyte differentiation is stimulated

limbs/digits/tail
• increase in tibia length




Genotype
MGI:3584277
cn9
Allelic
Composition
Ihhtm2Amc/Ihh+
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
Genetic
Background
involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ihhtm2Amc mutation (0 available); any Ihh mutation (13 available)
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (15 available)
Tg(Bglap2-cre)1Kry mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• elongation of the columnar region
• ectopic hypertrophic differentiation in growth plates




Genotype
MGI:3584275
cn10
Allelic
Composition
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (15 available)
Tg(Bglap2-cre)1Kry mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• chondrocytes prematurely differentiate into hypertrophic chondrocytes in the columnar region
• growth plate expansion




Genotype
MGI:3584346
cx11
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Col2a1-PTHLH)1Ecw/0
Genetic
Background
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1rtm1Hmk mutation (0 available); any Pth1r mutation (15 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (15 available)
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (15 available)
Tg(Col2a1-PTHLH)1Ecw mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• bone marrow formation is suppressed

skeleton
• rescued growth plate lacks hypertrophic chondrocytes and columnar cells
• bone formation is suppressed

limbs/digits/tail




Genotype
MGI:3584046
cx12
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 (15 available)
Pth1rtm3Hmk mutation (0 available); any Pth1r mutation (15 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





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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory