All Phenotypes Pth1r<tm1Hmk> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pth1r^tm1Hmk
targeted mutation 1, Henry M Kronenberg
MGI:2154519

Summary

12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pth1r^tm1Hmk/Pth1r^tm1Hmk	involves: 129X1/SvJ * Black Swiss * C57BL/6	MGI:3584246
hm2	Pth1r^tm1Hmk/Pth1r^tm1Hmk	involves: 129X1/SvJ * C57BL/6	MGI:3584244
hm3	Pth1r^tm1Hmk/Pth1r^tm1Hmk	involves: 129X1/SvJ * C57BL/6 * MF1	MGI:3584245
ht4	Pth1r^tm1Hmk/Pth1r^tm3Hmk	involves: 129S4/SvJae * C57BL/6	MGI:3584042
cn5	Ihh^tm1Amc/Ihh⁺ Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Bglap2-cre)1Kry/0	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB	MGI:3584276
cn6	Ihh^tm1Amc/Ihh^tm2Amc Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Bglap2-cre)1Kry/0	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB	MGI:3584278
cn7	Pthlh^tm1Hmk/Pthlh⁺ Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Bglap2-cre)1Kry/0	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB/N	MGI:3584345
cn8	Pthlh^tm1Hmk/Pthlh^tm1Hmk Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Bglap2-cre)1Kry/0 Tg(Col2a1-PTHLH)1Ecw/0	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB * SJL	MGI:3584347
cn9	Ihh^tm2Amc/Ihh⁺ Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Bglap2-cre)1Kry/0	involves: 129S4/SvJae * 129X1/SvJ * C57BL/6 * FVB/N	MGI:3584277
cn10	Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Bglap2-cre)1Kry/0	involves: 129S4/SvJae * C57BL/6 * FVB	MGI:3584275
cx11	Pthlh^tm1Hmk/Pthlh^tm1Hmk Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Col2a1-PTHLH)1Ecw/0	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * SJL	MGI:3584346
cx12	Pth1r^tm1Hmk/Pth1r^tm3Hmk Tg(Col2a1-PTHR1*H223R)AHju/?	involves: 129S4/SvJae * C57BL/6	MGI:3584046

Allelic Composition	Pth1r^tm1Hmk/Pth1r^tm1Hmk
Genetic Background	involves: 129X1/SvJ * Black Swiss * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1r^tm1Hmk mutation (0 available); any Pth1r mutation (28 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:61316 )

• mice survive untill birth but die within a few minutes of respiratory failure

perinatal lethality, complete penetrance ( J:34604 )

• 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

protruding tongue ( J:34604 )

short snout ( J:34604 )

embryonic growth retardation ( J:61316 )

• at E9.5 and E12.5, all organs are morphologically intact but smaller than normal

decreased embryo size ( J:34604 , J:61316 )

• reduced body size from at least E9.5 (J:61316)

decreased fetal size ( J:61316 )

• reduced fetal size at E18.5

embryo

embryonic growth retardation ( J:61316 )

• at E9.5 and E12.5, all organs are morphologically intact but smaller than normal

decreased embryo size ( J:34604 , J:61316 )

• reduced body size from at least E9.5 (J:61316)

skeleton

abnormal neurocranium morphology ( J:34604 )

• synchondrosis between the basioccipital, exoccipital, and basisphenoid bones due to excessive mineralization

foramen magnum stenosis ( J:34604 )

• exhibit narrowing of the foramen magnum

short mandible ( J:34604 )

domed cranium ( J:34604 )

abnormal long bone epiphyseal plate proliferative zone ( J:34604 )

• 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

decreased length of long bones ( J:34604 )

• shorter long bones

abnormal synchondrosis ( J:34604 )

• synchondrosis between the basioccipital, exoccipital, and basisphenoid bones due to excessive mineralization

abnormal hyaline cartilage morphology ( J:34604 )

• hyaline cartilage at E18.5 is composed of hypertrophic chondrocytes surrounded by perichondrial bone

abnormal bone mineralization ( J:34604 )

• mineralization of bones formed by endochondral replacement is accelerated

craniofacial

abnormal neurocranium morphology ( J:34604 )

• synchondrosis between the basioccipital, exoccipital, and basisphenoid bones due to excessive mineralization

foramen magnum stenosis ( J:34604 )

• exhibit narrowing of the foramen magnum

short mandible ( J:34604 )

domed cranium ( J:34604 )

protruding tongue ( J:34604 )

short snout ( J:34604 )

limbs/digits/tail

short limbs ( J:34604 )

respiratory system

respiratory system phenotype ( J:61316 )

• 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

small lung ( J:61316 )

• significantly reduced lung size at E18.5

atelectasis ( J:61316 )

• after hysterotomy, mutant E18.5 fetuses fail to inflate their lungs

respiratory failure ( J:61316 )

• mice survive untill birth but die within a few minutes of respiratory failure

digestive/alimentary system

protruding tongue ( J:34604 )

Allelic Composition	Pth1r^tm1Hmk/Pth1r^tm1Hmk
Genetic Background	involves: 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1r^tm1Hmk mutation (0 available); any Pth1r mutation (28 available)

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:34604 )

• 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

decreased embryo size ( J:34604 )

• smaller from at least E9.5

embryo

decreased embryo size ( J:34604 )

• smaller from at least E9.5

Allelic Composition	Pth1r^tm1Hmk/Pth1r^tm1Hmk
Genetic Background	involves: 129X1/SvJ * C57BL/6 * MF1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1r^tm1Hmk mutation (0 available); any Pth1r mutation (28 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:34604 )

• Background Sensitivity: reduced number of live embryos at E18.5

growth/size/body

decreased embryo size ( J:34604 )

embryo

decreased embryo size ( J:34604 )

Allelic Composition	Pth1r^tm1Hmk/Pth1r^tm3Hmk
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pth1r^tm1Hmk mutation (0 available); any Pth1r mutation (28 available)
Pth1r^tm3Hmk mutation (0 available); any Pth1r mutation (28 available)

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

growth/size/body

postnatal growth retardation ( J:77683 )

• begins around 7 days of age

limbs/digits/tail

abnormal limb morphology ( J:77683 )

• start to show limb deformities around 7 days of age

long tibia ( J:77683 )

• slightly greater total length of tibiae

skeleton

long tibia ( J:77683 )

• slightly greater total length of tibiae

abnormal long bone epiphyseal plate morphology ( J:77683 )

• slightly smaller columnar and periarticular regions of growth plates and greater growth plates than in controls

abnormal long bone hypertrophic chondrocyte zone ( J:77683 )

• hypertrophic layer expansion in E17.5 tibial growth plates and prehypertrophic domain expansion due to an increase in early hypertrophic cells

premature chondrocyte differentiation ( J:77683 )

• early chondrocyte differentiation is accelerated as indicated by increased numbers of proliferating hypertrophic chondrocytes and decreased numbers of proliferating columnar chondrocytes

Allelic Composition	Ihh^tm1Amc/Ihh⁺ Pth1r^tm1Hmk/Pth1r^tm2Hmk 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:
Ihh^tm1Amc mutation (1 available); any Ihh mutation (22 available)
Pth1r^tm1Hmk mutation (0 available); any Pth1r mutation (28 available)
Pth1r^tm2Hmk mutation (0 available); any Pth1r mutation (28 available)
Tg(Bglap2-cre)1Kry mutation (0 available)

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

skeleton

increased long bone epiphyseal plate size ( J:99641 )

• growth plate is expanded, however less than in compound heterozygous mice that contain Ihh

Allelic Composition	Ihh^tm1Amc/Ihh^tm2Amc Pth1r^tm1Hmk/Pth1r^tm2Hmk 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:
Ihh^tm1Amc mutation (1 available); any Ihh mutation (22 available)
Ihh^tm2Amc mutation (0 available); any Ihh mutation (22 available)
Pth1r^tm1Hmk mutation (0 available); any Pth1r mutation (28 available)
Pth1r^tm2Hmk mutation (0 available); any Pth1r mutation (28 available)
Tg(Bglap2-cre)1Kry mutation (0 available)

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

skeleton

abnormal chondrocyte differentiation ( J:99641 )

• ectopic hypertrophic differentiation in growth plates, however do not observe elongation of the columnar region

Allelic Composition	Pthlh^tm1Hmk/Pthlh⁺ Pth1r^tm1Hmk/Pth1r^tm2Hmk 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:
Pth1r^tm1Hmk mutation (0 available); any Pth1r mutation (28 available)
Pth1r^tm2Hmk mutation (0 available); any Pth1r mutation (28 available)
Pthlh^tm1Hmk mutation (0 available); any Pthlh mutation (19 available)
Tg(Bglap2-cre)1Kry mutation (0 available)

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

skeleton

decreased long bone epiphyseal plate size ( J:99641 )

• growth plate is shorted by about 8%

Allelic Composition	Pthlh^tm1Hmk/Pthlh^tm1Hmk Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Bglap2-cre)1Kry/0 Tg(Col2a1-PTHLH)1Ecw/0
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB * SJL

Find Mice

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

skeleton

long tibia ( J:99641 )

• increase in tibia length

abnormal long bone epiphyseal plate morphology ( J:99641 )

• exhibit ectopically differentiated chondrocytes

abnormal chondrocyte differentiation ( J:99641 )

• eutopic hypertrophic chondrocyte differentiation is stimulated

limbs/digits/tail

long tibia ( J:99641 )

• increase in tibia length

Allelic Composition	Ihh^tm2Amc/Ihh⁺ Pth1r^tm1Hmk/Pth1r^tm2Hmk 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:
Ihh^tm2Amc mutation (0 available); any Ihh mutation (22 available)
Pth1r^tm1Hmk mutation (0 available); any Pth1r mutation (28 available)
Pth1r^tm2Hmk mutation (0 available); any Pth1r mutation (28 available)
Tg(Bglap2-cre)1Kry mutation (0 available)

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

skeleton

abnormal long bone hypertrophic chondrocyte zone ( J:99641 )

• elongation of the columnar region

abnormal chondrocyte differentiation ( J:99641 )

• ectopic hypertrophic differentiation in growth plates

Allelic Composition	Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Bglap2-cre)1Kry/0
Genetic Background	involves: 129S4/SvJae * C57BL/6 * FVB

Find Mice

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

skeleton

abnormal long bone epiphyseal plate morphology ( J:99641 )

• chondrocytes prematurely differentiate into hypertrophic chondrocytes in the columnar region

increased long bone epiphyseal plate size ( J:99641 )

• growth plate expansion

Allelic Composition	Pthlh^tm1Hmk/Pthlh^tm1Hmk Pth1r^tm1Hmk/Pth1r^tm2Hmk Tg(Col2a1-PTHLH)1Ecw/0
Genetic Background	involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * SJL

Find Mice

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

skeleton

short tibia ( J:99641 )

abnormal long bone epiphyseal plate morphology ( J:99641 )

• rescued growth plate lacks hypertrophic chondrocytes and columnar cells

abnormal bone ossification ( J:99641 )

• bone formation is suppressed

limbs/digits/tail

short tibia ( J:99641 )

immune system

abnormal bone marrow development ( J:99641 )

• bone marrow formation is suppressed

Allelic Composition	Pth1r^tm1Hmk/Pth1r^tm3Hmk Tg(Col2a1-PTHR1*H223R)AHju/?
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

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

skeleton

abnormal long bone hypertrophic chondrocyte zone ( J:77683 )

• expansion of fully differentiated hypertrophic chondrocytes in tibia

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