Phenotypes associated with this allele

• Allele Symbol: Fam20c^tm1.1Cqi
• Allele Name: targeted mutation 1.1, Chunlin Qin
• Allele ID: MGI:5428020
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129S6/SvEvTac * C57BL/6 * CBA	MGI:5428021
cn2	Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi Tg(Col1a1-cre)2Bek/0	involves: 129S6/SvEvTac * CD-1	MGI:5755483

Genotype
MGI:5428021

cn1

• Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CBA

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

Small size, flat face, hypomineralization, and distorted spine in Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi Edil3^{Tg(Sox2-cre)1Amc}/0 mice

reproductive system

female infertility ( J:185208 )

♀

male infertility ( J:185208 )

♂

skeleton

decreased chondrocyte apoptosis ( J:185208 )

• decrease in the percentage of apoptotic cells in the hypertrophic zone

decreased chondrocyte proliferation ( J:185208 )

• decrease in the absolute number of proliferating chondrocytes

abnormal skeleton morphology ( J:185208 )

• small skeleton

impaired osteoblast differentiation ( J:185208 )

• downregulation of markers of terminal differentiation at 3 weeks of age

small cranium ( J:185208 )

• at 1 week of age

abnormal limb long bone morphology ( J:185208 )

• appearance of more porous areas in both the outer and inner bone surfaces

abnormal long bone diaphysis morphology ( J:185208 )

• increase in porosity

• the diaphysis region of the tibia has more osteoid/hypomineralized areas in the cortical bone

abnormal long bone epiphyseal plate morphology ( J:185208 )

• malformed

abnormal long bone epiphyseal plate proliferative zone ( J:185208 )

• reduced in size

• decrease in the absolute number of proliferating chondrocytes

increased width of hypertrophic chondrocyte zone ( J:185208 )

abnormal vertebral column morphology ( J:185208 )

• distorted spine

decreased bone mineral density ( J:185208 )

• at 6 weeks of age

• significantly lower mineral Apparent Density and Material Density in the tibia midshaft region at 3 and 6 weeks of age

decreased compact bone thickness ( J:185208 )

abnormal osteocyte morphology ( J:185208 )

• appear immature

abnormal chondrocyte differentiation ( J:185208 )

• both early stage differentiation and late stage maturation are affected

decreased bone mineralization ( J:185208 )

• lower levels of mineralization at 5 months of age

• significantly lower mineral deposition rate

osteomalacia ( J:185208 )

rickets ( J:185208 )

• hypophosphatemic rickets

delayed bone ossification ( J:185208 )

• in the ribs, long bones, and carpus at 1 weeks of age

delayed endochondral bone ossification ( J:185208 )

• delay in secondary ossification centers in the epiphysis in the long bones and vertebrae at 6 weeks of age

delayed cranial suture closure ( J:185208 )

fragile skeleton ( J:185208 )

• multiple fractures are often seen after 3 weeks of age

craniofacial

small cranium ( J:185208 )

• at 1 week of age

flat face ( J:185208 )

short snout ( J:185208 )

growth/size/body

flat face ( J:185208 )

short snout ( J:185208 )

decreased body size ( J:185208 )

• smaller stature at 1 week of age

• prominent dwarfism at 4 weeks of age

decreased body weight ( J:185208 )

postnatal growth retardation ( J:185208 )

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:185208 )

• at 18 and 42 days of age

decreased circulating phosphate level ( J:185208 )

• at 18 and 42 days of age

abnormal circulating protein level ( J:185208 )

• increase in serum FGF23 levels at 18 and 42 days of age

abnormal vitamin D level ( J:185208 )

• the 1,25(OH)2D3 level is reduced at 18 days of age but not at 42 days of age

limbs/digits/tail

abnormal limb long bone morphology ( J:185208 )

• appearance of more porous areas in both the outer and inner bone surfaces

cellular

decreased chondrocyte apoptosis ( J:185208 )

• decrease in the percentage of apoptotic cells in the hypertrophic zone

impaired osteoblast differentiation ( J:185208 )

• downregulation of markers of terminal differentiation at 3 weeks of age

decreased chondrocyte proliferation ( J:185208 )

• decrease in the absolute number of proliferating chondrocytes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rickets		DOID:10609		J:185208

Genotype
MGI:5755483

cn2

• Allelic Composition: Fam20c^tm1.1Cqi/Fam20c^tm1.1Cqi; Tg(Col1a1-cre)2Bek/0
• Genetic Background: involves: 129S6/SvEvTac * CD-1

digestive/alimentary system

detached junctional epithelium ( J:225679 )

• periodontium shows detachment of the junctional epithelium in 12 and 24 week old mice

skeleton

alveolar process atrophy ( J:225679 )

• the interdental region between the first and second mandibular molars shows bone loss at 12 weeks of age and by 24 weeks of age, very little alveolar bone remains in the interdental region

• at 24 weeks of age, the alveolar bone in the furcation region becomes island-like (bone spicules)

abnormal periodontal ligament morphology ( J:225679 )

• at 4 weeks of age, collagen fibers in the periodontal ligament are thinner and more disorganized and some collagen fibers appear broken or detached from the alveolar bone or root surface

• inflammation is seen in the periodontal ligament of 12 and 24 week old mice

periodontal ligament necrosis ( J:225679 )

• by 24 weeks of age, certain areas of the periodontal ligament are necrotized, accompanied by formation of abscesses due to bone absorption

abnormal cementum morphology ( J:225679 )

• amounts of cellular cementum appear to be reduced in 4, 12 and 24 week old mice

tooth abscess ( J:225679 )

• by 24 weeks of age, certain areas of the periodontal ligament are necrotized, accompanied by formation of abscesses due to bone absorption

decreased bone mineral density ( J:225679 )

• alveolar bone in the furcation and interdental regions shows a lower mineral density at 4 weeks of age, it appears more porous at 12 weeks of age, and abnormalities worsen with age, with 24 week old mice showing severe defects and porosities in the alveolar bone

decreased bone volume ( J:225679 )

• reduction in alveolar bone volume at 12 and 24 week of age

abnormal osteocyte lacunocanalicular system morphology ( J:225679 )

• at 4 weeks of age, the lacuno-canalicular networks in alveolar bone appear disorganized

abnormal osteocyte morphology ( J:225679 )

• lacunae of osteocytes in the alveolar bone of the interdental or furcation regions appear larger and are irregularly distributed with fewer organized canaliculi

abnormal osteocyte dendritic process morphology ( J:225679 )

• osteocytes processes in the alveolar bone appear abnormal

abnormal osteocyte canaliculus morphology ( J:225679 )

• fewer organized canaliculi are observed in alveolar bone; canaliculi appear thicker and more randomly distributed

abnormal osteocyte lacuna morphology ( J:225679 )

• the lacunae of osteocytes appeared "collapsed"

immune system

dental pulp inflammation ( J:225679 )

• inflammation in the dental pulp

periodontium inflammation ( J:225679 )

• mice develop periodontal disease, showing increased inflammation in the interdental and furcation regions

• inflammation is seen in the periodontal ligament of 12 and 24 week old mice

craniofacial

alveolar process atrophy ( J:225679 )

• the interdental region between the first and second mandibular molars shows bone loss at 12 weeks of age and by 24 weeks of age, very little alveolar bone remains in the interdental region

• at 24 weeks of age, the alveolar bone in the furcation region becomes island-like (bone spicules)

abnormal periodontal ligament morphology ( J:225679 )

• at 4 weeks of age, collagen fibers in the periodontal ligament are thinner and more disorganized and some collagen fibers appear broken or detached from the alveolar bone or root surface

• inflammation is seen in the periodontal ligament of 12 and 24 week old mice

periodontal ligament necrosis ( J:225679 )

• by 24 weeks of age, certain areas of the periodontal ligament are necrotized, accompanied by formation of abscesses due to bone absorption

abnormal cementum morphology ( J:225679 )

• amounts of cellular cementum appear to be reduced in 4, 12 and 24 week old mice

tooth abscess ( J:225679 )

• by 24 weeks of age, certain areas of the periodontal ligament are necrotized, accompanied by formation of abscesses due to bone absorption

detached junctional epithelium ( J:225679 )

• periodontium shows detachment of the junctional epithelium in 12 and 24 week old mice

periodontal pocket ( J:225679 )

• 12 and 24 week old mice show formation of periodontal pockets

growth/size/body

alveolar process atrophy ( J:225679 )

• the interdental region between the first and second mandibular molars shows bone loss at 12 weeks of age and by 24 weeks of age, very little alveolar bone remains in the interdental region

• at 24 weeks of age, the alveolar bone in the furcation region becomes island-like (bone spicules)

abnormal periodontal ligament morphology ( J:225679 )

• at 4 weeks of age, collagen fibers in the periodontal ligament are thinner and more disorganized and some collagen fibers appear broken or detached from the alveolar bone or root surface

• inflammation is seen in the periodontal ligament of 12 and 24 week old mice

periodontal ligament necrosis ( J:225679 )

• by 24 weeks of age, certain areas of the periodontal ligament are necrotized, accompanied by formation of abscesses due to bone absorption

abnormal cementum morphology ( J:225679 )

• amounts of cellular cementum appear to be reduced in 4, 12 and 24 week old mice

tooth abscess ( J:225679 )

• by 24 weeks of age, certain areas of the periodontal ligament are necrotized, accompanied by formation of abscesses due to bone absorption

detached junctional epithelium ( J:225679 )

• periodontium shows detachment of the junctional epithelium in 12 and 24 week old mice

periodontal pocket ( J:225679 )

• 12 and 24 week old mice show formation of periodontal pockets

decreased body height ( J:225679 )

• small stature

homeostasis/metabolism

decreased circulating phosphate level ( J:225679 )

• about 50% reduction in serum phosphorus levels

decreased collagen level ( J:225679 )

• the majority of collagen fibers in the interdental area are lost in 12 week old mice and nearly all of the collagen fibers in the interdental region are broken down at 24 weeks of age

cellular

periodontal ligament necrosis ( J:225679 )

• by 24 weeks of age, certain areas of the periodontal ligament are necrotized, accompanied by formation of abscesses due to bone absorption