Phenotypes associated with this allele

• Allele Symbol: Pth^tm1Dgo
• Allele Name: targeted mutation 1, David Goltzman
• Allele ID: MGI:2665181
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pth^tm1Dgo/Pth^tm1Dgo	involves: 129S2/SvPas * C57BL/6J	MGI:2665184
cx2	Pth^tm1Dgo/Pth^tm1Dgo Pthlh^tm1Hmk/Pthlh^tm1Hmk	involves: 129S2/SvPas * C57BL/6J	MGI:2665233

Genotype
MGI:2665184

hm1

• Allelic Composition: Pth^tm1Dgo/Pth^tm1Dgo
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

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

Skeletal phenotypes and tibial histology of Pth^tm1Dgo/Pth^tm1Dgo, Pthlh^tm1Hmk/Pthlh^tm1Hmk and Pth^tm1Dgo/Pth^tm1Dgo Pthlh^tm1Hmk/Pthlh^tm1Hmk mice

cellular

increased osteoblast apoptosis ( J:76407 )

• increase in osteoblast apoptosis in the endosteum

increased osteocyte apoptosis ( J:76407 )

• increase in levels of apoptosis in osteocytes in the endosteum

endocrine/exocrine glands

enlarged parathyroid gland ( J:76407 )

• greatly enlarged

skeleton

increased osteoblast apoptosis ( J:76407 )

• increase in osteoblast apoptosis in the endosteum

increased osteocyte apoptosis ( J:76407 )

• increase in levels of apoptosis in osteocytes in the endosteum

abnormal cranium morphology ( J:76407 )

• abnormal skull formation, with enhanced mineralization of the bones of the skull

decreased length of long bones ( J:76407 )

short metacarpal bones ( J:76407 )

short metatarsal bones ( J:76407 )

small vertebral body ( J:76407 )

• abnormal vertebral column

abnormal bone structure ( J:76407 )

abnormal osteoclast morphology ( J:76407 )

• size of osteoclasts is decreased

decreased osteoclast cell number ( J:76407 )

increased compact bone thickness ( J:76407 )

• increase in cortical bone thickness of long bones

decreased osteoblast cell number ( J:76407 )

• decrease in osteoblast numbers in the primary spongiosa and in the endosteum

abnormal trabecular bone morphology ( J:76407 )

• trabecular bone volume is diminished

abnormal skeleton development ( J:76407 )

abnormal cartilage development ( J:76407 )

• reduction in cartilage mineralization

increased width of hypertrophic chondrocyte zone ( J:76407 )

• enlargement of the hypertrophic zone

abnormal bone mineralization ( J:76407 )

• mineralization of cartilage matrix is reduced

• mineralization of the bones of the skull is enhanced

craniofacial

abnormal cranium morphology ( J:76407 )

• abnormal skull formation, with enhanced mineralization of the bones of the skull

cardiovascular system

abnormal angiogenesis ( J:76407 )

• vascular invasion in the growth plate is reduced

hematopoietic system

abnormal osteoclast morphology ( J:76407 )

• size of osteoclasts is decreased

decreased osteoclast cell number ( J:76407 )

immune system

abnormal osteoclast morphology ( J:76407 )

• size of osteoclasts is decreased

decreased osteoclast cell number ( J:76407 )

limbs/digits/tail

short metacarpal bones ( J:76407 )

short metatarsal bones ( J:76407 )

Genotype
MGI:2665233

cx2

• Allelic Composition: Pth^tm1Dgo/Pth^tm1Dgo; Pthlh^tm1Hmk/Pthlh^tm1Hmk
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

Skeletal phenotypes and tibial histology of Pth^tm1Dgo/Pth^tm1Dgo, Pthlh^tm1Hmk/Pthlh^tm1Hmk and Pth^tm1Dgo/Pth^tm1Dgo Pthlh^tm1Hmk/Pthlh^tm1Hmk mice

cellular

increased chondrocyte apoptosis ( J:76407 )

• number of apoptotic chondrocytes is increased five-fold

increased osteoblast apoptosis ( J:76407 )

• increase in osteoblast apoptosis in the endosteum

increased osteocyte apoptosis ( J:76407 )

• increase in levels of apoptosis in osteocytes in the endosteum

mortality/aging

perinatal lethality, complete penetrance ( J:76407 )

• mutants die at birth

growth/size/body

disproportionate dwarf ( J:76407 )

• short limbed dwarfism

endocrine/exocrine glands

enlarged parathyroid gland ( J:76407 )

• parathyroid glands are even more enlarged than in single Pth homozygotes

skeleton

increased chondrocyte apoptosis ( J:76407 )

• number of apoptotic chondrocytes is increased five-fold

increased osteoblast apoptosis ( J:76407 )

• increase in osteoblast apoptosis in the endosteum

increased osteocyte apoptosis ( J:76407 )

• increase in levels of apoptosis in osteocytes in the endosteum

abnormal skeleton morphology ( J:76407 )

• all elements of the axial and appendicular skeletons are dramatically reduced in size

abnormal appendicular skeleton morphology ( J:76407 )

• all elements of the appendicular skeleton are dramatically reduced in size

decreased length of long bones ( J:76407 )

abnormal axial skeleton morphology ( J:76407 )

• all elements of the axial skeleton are dramatically reduced in size

abnormal bone structure ( J:76407 )

abnormal osteoclast morphology ( J:76407 )

• size of osteoclasts is decreased

decreased osteoclast cell number ( J:76407 )

increased compact bone thickness ( J:76407 )

decreased osteoblast cell number ( J:76407 )

• decrease in osteoblast numbers in the primary spongiosa and in the endosteum

abnormal trabecular bone morphology ( J:76407 )

• trabecular bone volume is diminished

abnormal cartilage development ( J:76407 )

• reduction in cartilage matrix mineralization

abnormal long bone epiphyseal plate proliferative zone ( J:76407 )

• proliferating zone of chondrocytes is reduced

abnormal long bone hypertrophic chondrocyte zone ( J:76407 )

• deposition of type X collagen in the matrix of the hypertrophic zone is increased

increased width of hypertrophic chondrocyte zone ( J:76407 )

• hypertrophic zone is enlarged

abnormal bone mineralization ( J:76407 )

• mineralization of cartilage matrix is reduced

limbs/digits/tail

short limbs ( J:76407 )

cardiovascular system

abnormal angiogenesis ( J:76407 )

• vascular invasion in the growth plate is reduced

hematopoietic system

abnormal osteoclast morphology ( J:76407 )

• size of osteoclasts is decreased

decreased osteoclast cell number ( J:76407 )

immune system

abnormal osteoclast morphology ( J:76407 )

• size of osteoclasts is decreased

decreased osteoclast cell number ( J:76407 )