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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pthlhtm1Hmk
targeted mutation 1, Henry M Kronenberg
MGI:2154515
Summary 18 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pthlhtm1Hmk/Pthlhtm1Hmk either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6) MGI:3583956
hm2
Pthlhtm1Hmk/Pthlhtm1Hmk involves: 129S2/SvPas MGI:3717414
hm3
Pthlhtm1Hmk/Pthlhtm1Hmk involves: 129S2/SvPas * C57BL/6 MGI:3510231
hm4
Pthlhtm1Hmk/Pthlhtm1Hmk involves: 129S2/SvPas * C57BL/6J MGI:2665250
ht5
Pthlhtm1Hmk/Pthlh+ involves: 129S2/SvPas MGI:3617819
ht6
Pthlhtm1Hmk/Pthlh+ involves: 129S2/SvPas * C57BL/6 MGI:3510232
cn7
Pthlhtm1Ack/Pthlhtm1Hmk
Tg(ACTB-cre)2Mrt/0
involves: 129 * BALB/c * FVB/N MGI:3617820
cn8
Pthlhtm1Ack/Pthlhtm1Hmk
Tg(LGB-cre)74Acl/0
involves: 129 * C57BL/6 * CBA MGI:3617822
cn9
Pthlhtm1Hmk/Pthlh+
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Bglap2-cre)1Kry/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * FVB/N MGI:3584345
cn10
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
cx11
Pthlhtm1Hmk/Pthlhtm1Hmk
Pth1rtm1Hmk/Pth1rtm2Hmk
Tg(Col2a1-PTHLH)1Ecw/0
involves: 129S2/SvPas * 129S4/SvJae * C57BL/6 * SJL MGI:3584346
cx12
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHR1*H223R)AHju/Tg(Col2a1-PTHR1*H223R)AHju
involves: 129S2/SvPas * C57BL/6 MGI:3584031
cx13
Pthlhtm1Hmk/Pthlh+
Tg(Col2a1-GAL4)1Amc/0
Tg(UAS-IHH)1Amc/0
involves: 129S2/SvPas * C57BL/6 MGI:3584341
cx14
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-GAL4)1Amc/0
Tg(Col2a1-PTHR1*H223R)AHju/?
Tg(UAS-IHH)1Amc/0
involves: 129S2/SvPas * C57BL/6 MGI:3584352
cx15
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHR1*H223R)AHju/0
involves: 129S2/SvPas * C57BL/6 MGI:3717204
cx16
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHLH)2Ecw/0
involves: 129S2/SvPas * C57BL/6 * SJL MGI:3717417
cx17
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHLH)2Ecw/0
Tg(PTHLH)7Wmp/0
involves: 129S2/SvPas * C57BL/6 * SJL MGI:3717420
cx18
Pthtm1Dgo/Pthtm1Dgo
Pthlhtm1Hmk/Pthlhtm1Hmk
involves: 129S2/SvPas * C57BL/6J MGI:2665233


Genotype
MGI:3583956
hm1
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Genetic
Background
either: (involves: 129S2/SvPas) or (involves: 129S2/SvPas * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die immediately after birth (J:16911)
• mice die immediately after birth (J:16911)

respiratory system
• mice make feeble attempts to breathe (J:16911)
• mice make feeble attempts to breathe (J:16911)

homeostasis/metabolism
• skin remains bluish-grey until death (J:16911)
• skin remains bluish-grey until death (J:16911)

skeleton
• long bones are shorter, thicker, and deformed with mildy splayed ends (J:16911)
• long bones are shorter, thicker, and deformed with mildy splayed ends (J:16911)
• irregular metaphyseal margins in the long bones (J:16911)
• irregular metaphyseal margins in the long bones (J:16911)
• the thoracic cage is narrow and bell-shaped (J:16911)
• the thoracic cage is narrow and bell-shaped (J:16911)
• smaller in height and exhibit advanced ossification involving both the vertebral bodies and the articular processes (J:16911)
• smaller in height and exhibit advanced ossification involving both the vertebral bodies and the articular processes (J:16911)
• bony trabeculae of the primary spongiosa are shortened and distorted (J:16911)
• bony trabeculae of the primary spongiosa are shortened and distorted (J:16911)
• zone of resting chondrocytes and the zones of proliferation and maturation are shortened, however the numbers of multinucleated chondroclasts and osteoclasts are normal (J:16911)
• zone of resting chondrocytes and the zones of proliferation and maturation are shortened, however the numbers of multinucleated chondroclasts and osteoclasts are normal (J:16911)
• columns of proliferating chondrocytes are shorter and irregularly arranged (J:16911)
• columns of proliferating chondrocytes are shorter and irregularly arranged (J:16911)
• cartilage primorida of the ulna and radious are deformed and shortened at E14.5 but not at E12.5 (J:16911)
• cartilage primorida of the ulna and radious are deformed and shortened at E14.5 but not at E12.5 (J:16911)
• exhibit osteochondrodysplasia (J:16911)
• exhibit osteochondrodysplasia (J:16911)
• excessive/advanced mineralization (J:16911)
• excessive/advanced mineralization (J:16911)
• exhibit acceleration of the normal endochondral ossification process and also abnormal maturation of hyaline rib chondrocytes with associated perichondral ossification (J:16911)
• exhibit acceleration of the normal endochondral ossification process and also abnormal maturation of hyaline rib chondrocytes with associated perichondral ossification (J:16911)

limbs/digits/tail

craniofacial

digestive/alimentary system

growth/size/body

Mouse Models of Human Disease
OMIM ID Ref(s)
Achondroplasia; ACH 100800 J:16911




Genotype
MGI:3717414
hm2
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal phenotypes of wild type, Tg(Col2a1-PTHLH)2Ecw/0, Pthlhtm1Hmk/Pthlhtm1Hmk, and Pthlhtm1Hmk/Pthlhtm1Hmk Tg(Col2a1-PTHLH)2Ecw/0 mice

skeleton
• inappropriate ossification of the costal cartilage and along the length of the sternum (J:50144)
• inappropriate ossification of the costal cartilage and along the length of the sternum (J:50144)
• accelerated mineralization of the endochondral bones of the cranial base (J:50144)
• accelerated mineralization of the endochondral bones of the cranial base (J:50144)




Genotype
MGI:3510231
hm3
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
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 (4 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
• mice die at birth due to respiratory failure (J:90274)
• mice die at birth due to respiratory failure (J:90274)

respiratory system
• at E18.5 and at term (E19.0?E19.5), mutant lungs are denser and less-well aerated than control lungs (J:90274)
• at E18.5 and at term (E19.0?E19.5), mutant lungs are denser and less-well aerated than control lungs (J:90274)
• at E18.5, distal airways display immature features consistent with an arrest at the canalicular stage of lung development (J:90274)
• in vitro, E13.5 and E14.5 lung buds cultured in the absence of thoracic volume constriction or systemic compensating factors display delayed type II alveolar cell and mesenchymal differentiation; however, addition of exogenous PTHLH restores interstitial cell morphology (J:90274)
• at E18.5, distal airways display immature features consistent with an arrest at the canalicular stage of lung development (J:90274)
• in vitro, E13.5 and E14.5 lung buds cultured in the absence of thoracic volume constriction or systemic compensating factors display delayed type II alveolar cell and mesenchymal differentiation; however, addition of exogenous PTHLH restores interstitial cell morphology (J:90274)
• in vitro, E13.5 and E14.5 lung buds cultured in the absence of thoracic volume constriction or systemic compensating factors display delayed mesenchymal differentiation (J:90274)
• in vitro, E13.5 and E14.5 lung buds cultured in the absence of thoracic volume constriction or systemic compensating factors display delayed mesenchymal differentiation (J:90274)
• at E18.5, distinct saccules are absent and the % of lung tissue occupied by potential air spaces is reduced by ~50% (J:90274)
• at E18.5, mature saccular septa are absent (J:90274)
• at E18.5, distinct saccules are absent and the % of lung tissue occupied by potential air spaces is reduced by ~50% (J:90274)
• at E18.5, mature saccular septa are absent (J:90274)
• at E18.5, the mean area per saccule is reduced by ~50% (J:90274)
• at E18.5, the mean area per saccule is reduced by ~50% (J:90274)
• at E18.5, the septal mesenchyme displays an abnormal thickness and cellularity that is typical of canalicular-stage lung (J:90274)
• at E18.5, the septal mesenchyme displays an abnormal thickness and cellularity that is typical of canalicular-stage lung (J:90274)
• at E18.5, the cuboidal epithelium shows a significantly greater nuclear:cell area ratio (J:90274)
• at E18.5, the cuboidal epithelium shows a significantly greater nuclear:cell area ratio (J:90274)
• at E18.5, thin type I-like epithelial cells are absent, unlike in wild-type lungs (J:90274)
• at E18.5, thin type I-like epithelial cells are absent, unlike in wild-type lungs (J:90274)
• at E18.5, type II cells appear immature: only rounded to columnar cells with poorly differentiated cytoplasm, rare apical microvilli, large glycogen lakes, and few precursor multilamellar inclusion bodies or mature lamellar bodies are observed (J:90274)
• at E18.5, type II cells appear immature: only rounded to columnar cells with poorly differentiated cytoplasm, rare apical microvilli, large glycogen lakes, and few precursor multilamellar inclusion bodies or mature lamellar bodies are observed (J:90274)
• at E18.5, few precursor multilamellar inclusion bodies or mature lamellar bodies are observed (J:90274)
• at E18.5, few precursor multilamellar inclusion bodies or mature lamellar bodies are observed (J:90274)
• at E18.5, the septal mesenchyme displays an abnormal thickness and cellularity that is typical of canalicular-stage lung (J:90274)
• at E18.5, lung interstitia display immature fibroblastic cells that lack a conspicuous endoplasmic reticulum and Golgi complex (J:90274)
• many interstitial fibroblasts are packed with numerous lipid droplets, unlike in wild-type lungs (J:90274)
• areas of unremodeled basal lamina are observed, unlike in wild-type lungs (J:90274)
• at E18.5, the septal mesenchyme displays an abnormal thickness and cellularity that is typical of canalicular-stage lung (J:90274)
• at E18.5, lung interstitia display immature fibroblastic cells that lack a conspicuous endoplasmic reticulum and Golgi complex (J:90274)
• many interstitial fibroblasts are packed with numerous lipid droplets, unlike in wild-type lungs (J:90274)
• areas of unremodeled basal lamina are observed, unlike in wild-type lungs (J:90274)
• at E18.5 and at term, mutant lungs are smaller than control lungs (J:90274)
• however, lung weights are not significantly altered (J:90274)
• at E18.5 and at term, mutant lungs are smaller than control lungs (J:90274)
• however, lung weights are not significantly altered (J:90274)
• mice die at birth due to respiratory failure (J:90274)
• mice die at birth due to respiratory failure (J:90274)
• at E17.5 and E18.5, [3H]choline incorporation into surfactant phospholipid is reduced to one third of that seen in control lungs, consistent with a higher glycogen content (J:90274)
• notably, mRNA levels for surfactant protein (SP)-A, SP-B, and SP-C are not significantly altered in mice at E19 (J:90274)
• in vitro, E14.5 lungs maintained in serumless organ culture for 4 days show a >40% inhibition of surfactant phospholipid production; however, addition of exogenous PTHLH restores surfactant phospholipid production to normal levels (J:90274)
• at E17.5 and E18.5, [3H]choline incorporation into surfactant phospholipid is reduced to one third of that seen in control lungs, consistent with a higher glycogen content (J:90274)
• notably, mRNA levels for surfactant protein (SP)-A, SP-B, and SP-C are not significantly altered in mice at E19 (J:90274)
• in vitro, E14.5 lungs maintained in serumless organ culture for 4 days show a >40% inhibition of surfactant phospholipid production; however, addition of exogenous PTHLH restores surfactant phospholipid production to normal levels (J:90274)
• lungs removed from spontaneously delivered mice fail to float in saline solution (J:90274)
• lungs removed from spontaneously delivered mice fail to float in saline solution (J:90274)

skeleton
• deformed long bones (J:77639)
• deformed long bones (J:77639)
• diminished height of growth plate cartilage (J:77639)
• diminished height of growth plate cartilage (J:77639)
• premature ossification of the synchondrosis between the basoccipital bone and the basisphenoid bone (J:77639)
• premature ossification of the synchondrosis between the basoccipital bone and the basisphenoid bone (J:77639)

craniofacial

growth/size/body
• at E18.5, thoracic volume is reduced by >50% (J:90274)
• at E18.5, thoracic volume is reduced by >50% (J:90274)

cellular
• in vitro, E13.5 and E14.5 lung buds cultured in the absence of thoracic volume constriction or systemic compensating factors display delayed mesenchymal differentiation (J:90274)
• in vitro, E13.5 and E14.5 lung buds cultured in the absence of thoracic volume constriction or systemic compensating factors display delayed mesenchymal differentiation (J:90274)




Genotype
MGI:2665250
hm4
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal phenotypes and tibial histology of Pthtm1Dgo/Pthtm1Dgo, Pthlhtm1Hmk/Pthlhtm1Hmk and Pthtm1Dgo/Pthtm1Dgo Pthlhtm1Hmk/Pthlhtm1Hmk mice

mortality/aging
• mutants die at birth (J:76407)
• mutants die at birth (J:76407)

growth/size/body
• short limbed dwarfism (J:76407)
• short limbed dwarfism (J:76407)

endocrine/exocrine glands
• moderately enlarged (J:76407)
• moderately enlarged (J:76407)

limbs/digits/tail

skeleton
• size of osteoclasts is decreased (J:76407)
• size of osteoclasts is decreased (J:76407)
• increase in osteoblast and osteocyte apoptosis in the endosteum (J:76407)
• increase in osteoblast and osteocyte apoptosis in the endosteum (J:76407)
• increase in osteoblast numbers in the primary spongiosa and in the endosteum (J:76407)
• increase in osteoblast numbers in the primary spongiosa and in the endosteum (J:76407)
• increase in levels of apoptosis in osteocytes in the endosteum (J:76407)
• increase in levels of apoptosis in osteocytes in the endosteum (J:76407)
• trabecular bone volume is somewhat increased (J:76407)
• trabecular bone volume is somewhat increased (J:76407)
• reduction in cartilage mineralization (J:76407)
• reduction in cartilage mineralization (J:76407)
• proliferating zone of chondrocytes is reduced (J:76407)
• proliferating zone of chondrocytes is reduced (J:76407)
• deposition of type X collagen in the matrix of the hypertrophic zone is increased (J:76407)
• deposition of type X collagen in the matrix of the hypertrophic zone is increased (J:76407)
• hypertrophic zone is enlarged (J:76407)
• hypertrophic zone is enlarged (J:76407)
• number of apoptotic chondrocytes is increased five-fold (J:76407)
• number of apoptotic chondrocytes is increased five-fold (J:76407)
• mineralization of cartilage matrix is enhanced (J:76407)
• mineralization of cartilage matrix is enhanced (J:76407)

hematopoietic system
• size of osteoclasts is decreased (J:76407)
• size of osteoclasts is decreased (J:76407)

immune system
• size of osteoclasts is decreased (J:76407)
• size of osteoclasts is decreased (J:76407)




Genotype
MGI:3617819
ht5
Allelic
Composition
Pthlhtm1Hmk/Pthlh+
Genetic
Background
involves: 129S2/SvPas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• the number of osteoblastic cells formed from cultured bone marrow cells is severely decreased (J:100918)
• the number of osteoblastic cells formed from cultured bone marrow cells is severely decreased (J:100918)
• osteoclast surface relative to bone surface is reduced (J:100918)
• osteoclast surface relative to bone surface is reduced (J:100918)
• increase in apoptotic osteoblastic cells (J:100918)
• increase in apoptotic osteoblastic cells (J:100918)
• the 3 dimensional structure of the trabecular bone is altered, trabecular separation is increased, and a 50% is seen in the bone volume/tissue volume ratio (J:100918)
• rather than the normal trabecular plates rodlike structures are present and the degree of anisotropy is decreased (J:100918)
• the 3 dimensional structure of the trabecular bone is altered, trabecular separation is increased, and a 50% is seen in the bone volume/tissue volume ratio (J:100918)
• rather than the normal trabecular plates rodlike structures are present and the degree of anisotropy is decreased (J:100918)
• the mineral apposition rate is decreased in the metaphyseal trabecular bone (J:100918)
• injection of the 1-34 amino acid terminal fragment of human parathyroid hormone increases the mineral apposition rate relative to untreated heterozygotes (J:100918)
• the mineral apposition rate is decreased in the metaphyseal trabecular bone (J:100918)
• injection of the 1-34 amino acid terminal fragment of human parathyroid hormone increases the mineral apposition rate relative to untreated heterozygotes (J:100918)

hematopoietic system
• osteoclast surface relative to bone surface is reduced (J:100918)
• osteoclast surface relative to bone surface is reduced (J:100918)

immune system
• osteoclast surface relative to bone surface is reduced (J:100918)
• osteoclast surface relative to bone surface is reduced (J:100918)

cellular
• the number of osteoblastic cells formed from cultured bone marrow cells is severely decreased (J:100918)
• the number of osteoblastic cells formed from cultured bone marrow cells is severely decreased (J:100918)




Genotype
MGI:3510232
ht6
Allelic
Composition
Pthlhtm1Hmk/Pthlh+
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 (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• growth plate is shorted by about 8% (J:99641)
• growth plate is shorted by about 8% (J:99641)




Genotype
MGI:3617820
cn7
Allelic
Composition
Pthlhtm1Ack/Pthlhtm1Hmk
Tg(ACTB-cre)2Mrt/0
Genetic
Background
involves: 129 * BALB/c * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Ack mutation (0 available); any Pthlh mutation (4 available)
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 available)
Tg(ACTB-cre)2Mrt mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

skeleton
• the chondrocyte columns are disorganized and premature differentiation to the hypertrophic state occurs (J:69396)
• the chondrocyte columns are disorganized and premature differentiation to the hypertrophic state occurs (J:69396)
• decreased in size (J:69396)
• decreased in size (J:69396)
• the chondrocyte columns are disorganized (J:69396)
• the chondrocyte columns are disorganized (J:69396)
• premature and inappropriate ossification throughout the endochondral skeleton (J:69396)
• premature and inappropriate ossification throughout the endochondral skeleton (J:69396)

respiratory system

growth/size/body
• shortening of the mandible results in protrusion of the tongue (J:69396)
• shortening of the mandible results in protrusion of the tongue (J:69396)
• narrow thorax (J:69396)
• narrow thorax (J:69396)

craniofacial
• shortening of the mandible results in protrusion of the tongue (J:69396)
• shortening of the mandible results in protrusion of the tongue (J:69396)

digestive/alimentary system
• shortening of the mandible results in protrusion of the tongue (J:69396)
• shortening of the mandible results in protrusion of the tongue (J:69396)




Genotype
MGI:3617822
cn8
Allelic
Composition
Pthlhtm1Ack/Pthlhtm1Hmk
Tg(LGB-cre)74Acl/0
Genetic
Background
involves: 129 * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Ack mutation (0 available); any Pthlh mutation (4 available)
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 available)
Tg(LGB-cre)74Acl mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• the osteoclast surface/bone surface ratio and number of osteoclasts per bone perimeter are reduced (J:86536)
• the osteoclast surface/bone surface ratio and number of osteoclasts per bone perimeter are reduced (J:86536)
• the reduced rate of bone turnover during lactation preserves bone mass so that on day 12 of lactation mutants have nearly 20% more bone mass than controls (J:86536)
• however, bone mass is similar to controls at the start of lactation (J:86536)
• the reduced rate of bone turnover during lactation preserves bone mass so that on day 12 of lactation mutants have nearly 20% more bone mass than controls (J:86536)
• however, bone mass is similar to controls at the start of lactation (J:86536)
• bone formation rate per tissue volume is reduced (J:86536)
• however, osteoblast numbers and surface appear normal (J:86536)
• bone formation rate per tissue volume is reduced (J:86536)
• however, osteoblast numbers and surface appear normal (J:86536)

homeostasis/metabolism
• plasma levels of parathyroid hormone related protein are significantly lower in lactating mutants compared to controls; however plasma levels of parathyroid hormone and calcium are normal (J:86536)
• plasma levels of parathyroid hormone related protein are significantly lower in lactating mutants compared to controls; however plasma levels of parathyroid hormone and calcium are normal (J:86536)
• plasma levels of 1,25-dihydroxy vitamin D are significantly lower (43.5 +/- 2.2 pg/ml versus 55.9 +/- 5.9 pg/ml in controls) (J:86536)
• plasma levels of 1,25-dihydroxy vitamin D are significantly lower (43.5 +/- 2.2 pg/ml versus 55.9 +/- 5.9 pg/ml in controls) (J:86536)
• urinary excretion of cAMP is decreased to 19.3 +/- 0.8 ug/mmol creatinine compared to 33.9 +/- 0.6 ug/mmol creatinine in controls (J:86536)
• urinary levels of C-telopeptides of type I collagen are significantly lower (3.98 +/- 0.82 ug/mmol creatinine versus 6.83 +/- 0.29 ug/mmol creatinine in controls) (J:86536)
• urinary excretion of cAMP is decreased to 19.3 +/- 0.8 ug/mmol creatinine compared to 33.9 +/- 0.6 ug/mmol creatinine in controls (J:86536)
• urinary levels of C-telopeptides of type I collagen are significantly lower (3.98 +/- 0.82 ug/mmol creatinine versus 6.83 +/- 0.29 ug/mmol creatinine in controls) (J:86536)

reproductive system
N
• no functional defects in lactation, abnormalities in mammary gland morphology, or decrease in litter size or growth of pups is seen (J:86536)
• no functional defects in lactation, abnormalities in mammary gland morphology, or decrease in litter size or growth of pups is seen (J:86536)

renal/urinary system
• urinary excretion of cAMP is decreased to 19.3 +/- 0.8 ug/mmol creatinine compared to 33.9 +/- 0.6 ug/mmol creatinine in controls (J:86536)
• urinary levels of C-telopeptides of type I collagen are significantly lower (3.98 +/- 0.82 ug/mmol creatinine versus 6.83 +/- 0.29 ug/mmol creatinine in controls) (J:86536)
• urinary excretion of cAMP is decreased to 19.3 +/- 0.8 ug/mmol creatinine compared to 33.9 +/- 0.6 ug/mmol creatinine in controls (J:86536)
• urinary levels of C-telopeptides of type I collagen are significantly lower (3.98 +/- 0.82 ug/mmol creatinine versus 6.83 +/- 0.29 ug/mmol creatinine in controls) (J:86536)

hematopoietic system
• the osteoclast surface/bone surface ratio and number of osteoclasts per bone perimeter are reduced (J:86536)
• the osteoclast surface/bone surface ratio and number of osteoclasts per bone perimeter are reduced (J:86536)

immune system
• the osteoclast surface/bone surface ratio and number of osteoclasts per bone perimeter are reduced (J:86536)
• the osteoclast surface/bone surface ratio and number of osteoclasts per bone perimeter are reduced (J:86536)




Genotype
MGI:3584345
cn9
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 (2 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (2 available)
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 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% (J:99641)
• growth plate is shorted by about 8% (J:99641)




Genotype
MGI:3584347
cn10
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 (2 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (2 available)
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 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 (J:99641)
• increase in tibia length (J:99641)
• exhibit ectopically differentiated chondrocytes (J:99641)
• exhibit ectopically differentiated chondrocytes (J:99641)
• eutopic hypertrophic chondrocyte differentiation is stimulated (J:99641)
• eutopic hypertrophic chondrocyte differentiation is stimulated (J:99641)

limbs/digits/tail
• increase in tibia length (J:99641)
• increase in tibia length (J:99641)




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 (2 available)
Pth1rtm2Hmk mutation (0 available); any Pth1r mutation (2 available)
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 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 (J:99641)
• bone marrow formation is suppressed (J:99641)

skeleton
• rescued growth plate lacks hypertrophic chondrocytes and columnar cells (J:99641)
• rescued growth plate lacks hypertrophic chondrocytes and columnar cells (J:99641)
• bone formation is suppressed (J:99641)
• bone formation is suppressed (J:99641)

limbs/digits/tail




Genotype
MGI:3584031
cx12
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 (4 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 (J:77639)
• survive up to 2 months compared to death around birth in single Pthlh homozygous null mice (J:77639)

growth/size/body
• number of ameloblasts is reduced (J:77639)
• number of ameloblasts is reduced (J:77639)
• tooth eruption is lacking even though tooth buds develop (J:77639)
• tooth eruption is lacking even though tooth buds develop (J:77639)
• the odontoblast layer is disorganized (J:77639)
• the odontoblast layer is disorganized (J:77639)
• although the endochondral bone formation defect of Pthlh homozygous null mice is rescued, mutant mice are malnourished and grow less than controls (J:77639)
• although the endochondral bone formation defect of Pthlh homozygous null mice is rescued, mutant mice are malnourished and grow less than controls (J:77639)

skeleton
• premature disappearance of the growth plates and their secondary ossification centers (J:77639)
• premature disappearance of the growth plates and their secondary ossification centers (J:77639)

craniofacial
• number of ameloblasts is reduced (J:77639)
• number of ameloblasts is reduced (J:77639)
• tooth eruption is lacking even though tooth buds develop (J:77639)
• tooth eruption is lacking even though tooth buds develop (J:77639)
• the odontoblast layer is disorganized (J:77639)
• the odontoblast layer is disorganized (J:77639)




Genotype
MGI:3584341
cx13
Allelic
Composition
Pthlhtm1Hmk/Pthlh+
Tg(Col2a1-GAL4)1Amc/0
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 (4 available)
Tg(Col2a1-GAL4)1Amc mutation (0 available)
Tg(UAS-IHH)1Amc mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• growth plate is shorted by about 8% (J:99641)
• growth plate is shorted by about 8% (J:99641)




Genotype
MGI:3584352
cx14
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 (4 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 (J:99641)
• increase in length of the columnar region compared to Pthlh mutant mice that express the constitutively active PTHR1 but do not overexpress IHH (J:99641)




Genotype
MGI:3717204
cx15
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 (4 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 (J:77639)
• postnatal survival is prolonged for up to 2 months compared to death around birth in single Pthlh homozygous null mice (J:77639)

skeleton
N
• at birth or before birth, mutant skeletons appear normal and do not exhibit premature or abnormal mineralization, indicating rescue by the transgene (J:77639)
• at birth or before birth, mutant skeletons appear normal and do not exhibit premature or abnormal mineralization, indicating rescue by the transgene (J:77639)
• 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 (J:99641)
• 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 (J:99641)




Genotype
MGI:3717417
cx16
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHLH)2Ecw/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 available)
Tg(Col2a1-PTHLH)2Ecw mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal phenotypes of wild type, Tg(Col2a1-PTHLH)2Ecw/0, Pthlhtm1Hmk/Pthlhtm1Hmk, and Pthlhtm1Hmk/Pthlhtm1Hmk Tg(Col2a1-PTHLH)2Ecw/0 mice

mortality/aging
• less than half survive past 3 weeks of age (J:50144)
• less than half survive past 3 weeks of age (J:50144)
• life span of the rest is about 6 months (J:50144)
• life span of the rest is about 6 months (J:50144)

growth/size/body
• teeth become irreversibly ankylosed because of the fusion of the dental cementum with the encroaching alveolar bone (J:50144)
• teeth become irreversibly ankylosed because of the fusion of the dental cementum with the encroaching alveolar bone (J:50144)
• failure of root formation (J:50144)
• tooth morphogenesis is normal in late gestation but by birth, incisors are impacted and by 1 week of age, the molars are also impacted (J:50144)
• failure of root formation (J:50144)
• tooth morphogenesis is normal in late gestation but by birth, incisors are impacted and by 1 week of age, the molars are also impacted (J:50144)
• the ameloblast layer of incisors is missing (J:50144)
• the ameloblast layer of incisors is missing (J:50144)
• the molar crypt is choked with bone and the teeth are distorted, however the ameloblast layer is intact and the enamel is deposited (J:50144)
• the molar crypt is choked with bone and the teeth are distorted, however the ameloblast layer is intact and the enamel is deposited (J:50144)
• failure of tooth eruption leading to the absence of external incisors and molars (J:50144)
• incisors and molars are impacted (J:50144)
• failure of tooth eruption leading to the absence of external incisors and molars (J:50144)
• incisors and molars are impacted (J:50144)
• enamel is absent from the labial surface of the incisor (J:50144)
• enamel is absent from the labial surface of the incisor (J:50144)
• mutants fail to thrive and exhibit a 50% reduction in both size and weight by the time of weaning (J:50144)
• mutants fail to thrive and exhibit a 50% reduction in both size and weight by the time of weaning (J:50144)
• with increasing age, display a progressive short-limbed dwarfism (J:50144)
• with increasing age, display a progressive short-limbed dwarfism (J:50144)

limbs/digits/tail
• foreshortening of the limbs is apparent by 8 weeks of age (J:50144)
• foreshortening of the limbs is apparent by 8 weeks of age (J:50144)

vision/eye
• shallow eye sockets cause ocular proptosis (J:50144)
• shallow eye sockets cause ocular proptosis (J:50144)

craniofacial
• with increasing age, display doming of the calvarium (J:50144)
• with increasing age, display doming of the calvarium (J:50144)
• foreshortened mandible (J:50144)
• foreshortened mandible (J:50144)
• foreshortened maxilla (J:50144)
• foreshortened maxilla (J:50144)
• teeth become irreversibly ankylosed because of the fusion of the dental cementum with the encroaching alveolar bone (J:50144)
• teeth become irreversibly ankylosed because of the fusion of the dental cementum with the encroaching alveolar bone (J:50144)
• failure of root formation (J:50144)
• tooth morphogenesis is normal in late gestation but by birth, incisors are impacted and by 1 week of age, the molars are also impacted (J:50144)
• failure of root formation (J:50144)
• tooth morphogenesis is normal in late gestation but by birth, incisors are impacted and by 1 week of age, the molars are also impacted (J:50144)
• the ameloblast layer of incisors is missing (J:50144)
• the ameloblast layer of incisors is missing (J:50144)
• the molar crypt is choked with bone and the teeth are distorted, however the ameloblast layer is intact and the enamel is deposited (J:50144)
• the molar crypt is choked with bone and the teeth are distorted, however the ameloblast layer is intact and the enamel is deposited (J:50144)
• failure of tooth eruption leading to the absence of external incisors and molars (J:50144)
• incisors and molars are impacted (J:50144)
• failure of tooth eruption leading to the absence of external incisors and molars (J:50144)
• incisors and molars are impacted (J:50144)
• enamel is absent from the labial surface of the incisor (J:50144)
• enamel is absent from the labial surface of the incisor (J:50144)

skeleton
• with increasing age, display doming of the calvarium (J:50144)
• with increasing age, display doming of the calvarium (J:50144)
• foreshortened mandible (J:50144)
• foreshortened mandible (J:50144)
• foreshortened maxilla (J:50144)
• foreshortened maxilla (J:50144)
• cranial chondrodystrophy includes doming of the calvarium, frontal bossing, and a flattened snout (J:50144)
• cranial chondrodystrophy includes doming of the calvarium, frontal bossing, and a flattened snout (J:50144)




Genotype
MGI:3717420
cx17
Allelic
Composition
Pthlhtm1Hmk/Pthlhtm1Hmk
Tg(Col2a1-PTHLH)2Ecw/0
Tg(PTHLH)7Wmp/0
Genetic
Background
involves: 129S2/SvPas * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 available)
Tg(Col2a1-PTHLH)2Ecw mutation (0 available)
Tg(PTHLH)7Wmp mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Dental phenotype of Pthlhtm1Hmk/Pthlhtm1Hmk mice rescued with Tg(Col2a1-PTHLH)2Ecw and Tg(PTHLH)7Wmp transgenes

mortality/aging

growth/size/body
• malocclusion allows for unchecked growth of the lower incisors (J:50144)
• malocclusion allows for unchecked growth of the lower incisors (J:50144)

skeleton
• foreshortened maxilla (J:50144)
• foreshortened maxilla (J:50144)
• as a result of the chondrodystrophy in the skulls, the lower mandibular incisors protrude beyond the upper incisors (J:50144)
• upper incisors remain partly occluded and are less affected (J:50144)
• however, incisors and molars erupt normally and on schedule (J:50144)
• as a result of the chondrodystrophy in the skulls, the lower mandibular incisors protrude beyond the upper incisors (J:50144)
• upper incisors remain partly occluded and are less affected (J:50144)
• however, incisors and molars erupt normally and on schedule (J:50144)
• develop progressive chondrodystrophy (J:50144)
• develop progressive chondrodystrophy (J:50144)

craniofacial
• foreshortened maxilla (J:50144)
• foreshortened maxilla (J:50144)
• as a result of the chondrodystrophy in the skulls, the lower mandibular incisors protrude beyond the upper incisors (J:50144)
• upper incisors remain partly occluded and are less affected (J:50144)
• however, incisors and molars erupt normally and on schedule (J:50144)
• as a result of the chondrodystrophy in the skulls, the lower mandibular incisors protrude beyond the upper incisors (J:50144)
• upper incisors remain partly occluded and are less affected (J:50144)
• however, incisors and molars erupt normally and on schedule (J:50144)
• malocclusion allows for unchecked growth of the lower incisors (J:50144)
• malocclusion allows for unchecked growth of the lower incisors (J:50144)




Genotype
MGI:2665233
cx18
Allelic
Composition
Pthtm1Dgo/Pthtm1Dgo
Pthlhtm1Hmk/Pthlhtm1Hmk
Genetic
Background
involves: 129S2/SvPas * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pthlhtm1Hmk mutation (0 available); any Pthlh mutation (4 available)
Pthtm1Dgo mutation (0 available); any Pth mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Skeletal phenotypes and tibial histology of Pthtm1Dgo/Pthtm1Dgo, Pthlhtm1Hmk/Pthlhtm1Hmk and Pthtm1Dgo/Pthtm1Dgo Pthlhtm1Hmk/Pthlhtm1Hmk mice

mortality/aging
• mutants die at birth (J:76407)
• mutants die at birth (J:76407)

growth/size/body
• short limbed dwarfism (J:76407)
• short limbed dwarfism (J:76407)

endocrine/exocrine glands
• parathyroid glands are even more enlarged than in single Pth homozygotes (J:76407)
• parathyroid glands are even more enlarged than in single Pth homozygotes (J:76407)

skeleton
• all elements of the axial and appendicular skeletons are dramatically reduced in size (J:76407)
• all elements of the axial and appendicular skeletons are dramatically reduced in size (J:76407)
• all elements of the appendicular skeleton are dramatically reduced in size (J:76407)
• all elements of the appendicular skeleton are dramatically reduced in size (J:76407)
• all elements of the axial skeleton are dramatically reduced in size (J:76407)
• all elements of the axial skeleton are dramatically reduced in size (J:76407)
• size of osteoclasts is decreased (J:76407)
• size of osteoclasts is decreased (J:76407)
• increase in osteoblast and osteocyte apoptosis in the endosteum (J:76407)
• increase in osteoblast and osteocyte apoptosis in the endosteum (J:76407)
• decrease in osteoblast numbers in the primary spongiosa and in the endosteum (J:76407)
• decrease in osteoblast numbers in the primary spongiosa and in the endosteum (J:76407)
• increase in levels of apoptosis in osteocytes in the endosteum (J:76407)
• increase in levels of apoptosis in osteocytes in the endosteum (J:76407)
• trabecular bone volume is diminished (J:76407)
• trabecular bone volume is diminished (J:76407)
• reduction in cartilage matrix mineralization (J:76407)
• reduction in cartilage matrix mineralization (J:76407)
• proliferating zone of chondrocytes is reduced (J:76407)
• proliferating zone of chondrocytes is reduced (J:76407)
• deposition of type X collagen in the matrix of the hypertrophic zone is increased (J:76407)
• deposition of type X collagen in the matrix of the hypertrophic zone is increased (J:76407)
• hypertrophic zone is enlarged (J:76407)
• hypertrophic zone is enlarged (J:76407)
• number of apoptotic chondrocytes is increased five-fold (J:76407)
• number of apoptotic chondrocytes is increased five-fold (J:76407)
• mineralization of cartilage matrix is reduced (J:76407)
• mineralization of cartilage matrix is reduced (J:76407)

limbs/digits/tail

cardiovascular system
• vascular invasion in the growth plate is reduced (J:76407)
• vascular invasion in the growth plate is reduced (J:76407)

hematopoietic system
• size of osteoclasts is decreased (J:76407)
• size of osteoclasts is decreased (J:76407)

immune system
• size of osteoclasts is decreased (J:76407)
• size of osteoclasts is decreased (J:76407)





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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory