Phenotypes associated with this allele

• Allele Symbol: Pthlh^tm1Fbe
• Allele Name: targeted mutation 1, F Beck
• Allele ID: MGI:2388593
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pthlh^tm1Fbe/Pthlh^tm1Fbe	involves: 129S1/Sv * 129X1/SvJ	MGI:3819180
hm2	Pthlh^tm1Fbe/Pthlh^tm1Fbe	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3819184
hm3	Pthlh^tm1Fbe/Pthlh^tm1Fbe	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3819269
cx4	Fgfr3^tm1Dor/Fgfr3^tm1Dor Pthlh^tm1Fbe/Pthlh^tm1Fbe	involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ	MGI:3819367

Genotype
MGI:3819180

hm1

• Allelic Composition: Pthlh^tm1Fbe/Pthlh^tm1Fbe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:109505 )

• neonatal lethality occurs to these mice

skeleton

short humerus ( J:109505 )

• humerus length of neonates is 2.18 mm versus 2.80 mm in wild-type neonates

short radius ( J:109505 )

• radius length of neonates is 2.42 mm versus 3.04 mm in wild-type neonates

short ulna ( J:109505 )

• is observed in neonates compared to controls

short femur ( J:109505 )

• femur length of neonates is 2.20 mm versus 2.46 mm in wild-type neonates

abnormal long bone epiphyseal plate morphology ( J:109505 )

• the total epiphyseal cartilage is considerably reduced compared to controls

abnormal long bone hypertrophic chondrocyte zone ( J:109505 )

• small cells within the lacunae are dispersed among normal hypertrophic cells

• mineral deposits are only observed in the lowermost zones of hyprertrophic cells instead of throughout the hypertrophic zone as is seen in wild-type

decreased long bone epiphyseal plate size ( J:109505 )

• the total epiphyseal cartilage is considerably reduced compared to controls

abnormal axial skeleton morphology ( J:109505 )

• the axial skeleton is shortened in neonates compared to controls

domed cranium ( J:109505 )

• is observed in these mice

short ribs ( J:109505 )

• rib size and the amount of cartilage is decreased in these mice

limbs/digits/tail

short humerus ( J:109505 )

• humerus length of neonates is 2.18 mm versus 2.80 mm in wild-type neonates

short radius ( J:109505 )

• radius length of neonates is 2.42 mm versus 3.04 mm in wild-type neonates

short ulna ( J:109505 )

• is observed in neonates compared to controls

short femur ( J:109505 )

• femur length of neonates is 2.20 mm versus 2.46 mm in wild-type neonates

short limbs ( J:109505 )

• is observed in these mice

homeostasis/metabolism

abnormal calcium ion homeostasis ( J:79622 )

• total body calcium in E18.5 embryos is significantly higher than controls with 4.07 mmol/g ash compared to 3.84 mmol/g ash

abnormal circulating calcium level ( J:79622 )

• E18.5 embryos have lower levels of ionized calcium than controls (1.37 mmol versus 1.47 in wild-type)

• total serum calcium of E18.5 embryos is 2.45 mmol versus 2.57 mmol in wild-type embryos

craniofacial

domed cranium ( J:109505 )

• is observed in these mice

Genotype
MGI:3819184

hm2

• Allelic Composition: Pthlh^tm1Fbe/Pthlh^tm1Fbe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

skeleton

abnormal mandible morphology ( J:112521 )

• trabecular bone of the mandible is malformed with an abnormal branching pattern and more variation in thickness

• calclein labeling at E16 demonstrates that bone formation in the mandible occurs irregularly over the bone surface

short mandible ( J:112521 )

• short snout and mandible is characteristic of the mice

domed cranium ( J:112521 )

• is characteristic of the mice

abnormal clavicle morphology ( J:112521 )

• the intramembranous bone of the clavicle has variable thickness

abnormal osteoblast morphology ( J:112521 )

• the arrangement of osteoblasts along the periosteum of the E18.5 femur is irregular and has a stratified appearance

abnormal trabecular bone morphology ( J:112521 )

• trabecular bone of the mandible is malformed with an abnormal branching pattern and more variation in thickness

• calclein labeling at E16 demonstrates that bone formation in the mandible occurs irregularly over the bone surface

• the intramembranous bone of the clavicle has variable thickness

digestive/alimentary system

protruding tongue ( J:112521 )

• the tongue protrudes from the mouth

craniofacial

abnormal mandible morphology ( J:112521 )

• trabecular bone of the mandible is malformed with an abnormal branching pattern and more variation in thickness

• calclein labeling at E16 demonstrates that bone formation in the mandible occurs irregularly over the bone surface

short mandible ( J:112521 )

• short snout and mandible is characteristic of the mice

domed cranium ( J:112521 )

• is characteristic of the mice

protruding tongue ( J:112521 )

• the tongue protrudes from the mouth

short snout ( J:112521 )

• short snout and mandible is characteristic of the mice

growth/size/body

protruding tongue ( J:112521 )

• the tongue protrudes from the mouth

short snout ( J:112521 )

• short snout and mandible is characteristic of the mice

Genotype
MGI:3819269

hm3

• Allelic Composition: Pthlh^tm1Fbe/Pthlh^tm1Fbe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

craniofacial

failure of tooth eruption ( J:109342 )

• mice have failure of tooth eruption

• osteoblasts instead of osteoclasts surround the inner aspects of the alveolar bone surrounding the developing tooth germs in E17.5 embryos

• neonatates have unusual bone spicules that penetrate or compress the enamel organ and cause partial destruction of the tooth germs

• osteoclasts are few in number on the inner aspects of the alveolar bone and have poorly developed ruffle borders

• the osteoclast surface on the enamel organ side of the alveolar bone surface in E18.5 embryos is about half that of wild-type controls

• osteoclasts located away from the inner aspect of the alveolar bone have a normal morphology

growth/size/body

failure of tooth eruption ( J:109342 )

• mice have failure of tooth eruption

• osteoblasts instead of osteoclasts surround the inner aspects of the alveolar bone surrounding the developing tooth germs in E17.5 embryos

• neonatates have unusual bone spicules that penetrate or compress the enamel organ and cause partial destruction of the tooth germs

• osteoclasts are few in number on the inner aspects of the alveolar bone and have poorly developed ruffle borders

• the osteoclast surface on the enamel organ side of the alveolar bone surface in E18.5 embryos is about half that of wild-type controls

• osteoclasts located away from the inner aspect of the alveolar bone have a normal morphology

skeleton

failure of tooth eruption ( J:109342 )

• mice have failure of tooth eruption

• osteoblasts instead of osteoclasts surround the inner aspects of the alveolar bone surrounding the developing tooth germs in E17.5 embryos

• neonatates have unusual bone spicules that penetrate or compress the enamel organ and cause partial destruction of the tooth germs

• osteoclasts are few in number on the inner aspects of the alveolar bone and have poorly developed ruffle borders

• the osteoclast surface on the enamel organ side of the alveolar bone surface in E18.5 embryos is about half that of wild-type controls

• osteoclasts located away from the inner aspect of the alveolar bone have a normal morphology

Genotype
MGI:3819367

cx4

• Allelic Composition: Fgfr3^tm1Dor/Fgfr3^tm1Dor; Pthlh^tm1Fbe/Pthlh^tm1Fbe
• Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ

mortality/aging

neonatal lethality, complete penetrance ( J:109505 )

• neonatal lethality occurs to these mice

skeleton

short humerus ( J:109505 )

• humerus length of neonates is 2.10 mm versus 2.80 mm in wild-type neonates

short radius ( J:109505 )

• radius length of neonates is 2.30 mm versus 3.04 mm in wild-type neonates

short ulna ( J:109505 )

• is observed in neonates compared to controls

short femur ( J:109505 )

• femur length of neonates is 2.14 mm versus 2.46 mm in wild-type neonates

abnormal long bone epiphyseal plate morphology ( J:109505 )

• there is a significant decrease in proliferating cells of the epiphyses (8.74% versus 13.03%)

abnormal long bone hypertrophic chondrocyte zone ( J:109505 )

• larger, irregularly shaped cells are dispersed among the normal, regular shaped hypertrophic cells

• mineral deposits are only observed in the lowermost zones of hyprertrophic cells instead of throughout the hypertrophic zone as is seen in wild-type

increased width of hypertrophic chondrocyte zone ( J:109505 )

• while the epiphyseal cartilage is reduced compared to wild-type, there is a disproportionate increase in the depth of type X positive cells that demarcate the hypertrophic zone

decreased long bone epiphyseal plate size ( J:109505 )

• the total epiphyseal cartilage is considerably reduced compared to controls

abnormal axial skeleton morphology ( J:109505 )

• the axial skeleton is shortened in neonates compared to controls

domed cranium ( J:109505 )

• is observed in these mice

limbs/digits/tail

short humerus ( J:109505 )

• humerus length of neonates is 2.10 mm versus 2.80 mm in wild-type neonates

short radius ( J:109505 )

• radius length of neonates is 2.30 mm versus 3.04 mm in wild-type neonates

short ulna ( J:109505 )

• is observed in neonates compared to controls

short femur ( J:109505 )

• femur length of neonates is 2.14 mm versus 2.46 mm in wild-type neonates

short limbs ( J:109505 )

• is observed in these mice

craniofacial

domed cranium ( J:109505 )

• is observed in these mice