Analysis Tools
mortality/aging
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• 8.8% of mutants survive past birth
(J:3906)
• only 10% of mice survive to live a normal lifespan and breed normally
(J:6711)
• survivors remain small and deformed
(J:6711)
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• 91.25% of mutants with deformities die at birth or within a day or two of birth
(J:3906)
• 90% of homozygous mice die before day 3
(J:6711)
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growth/size/body
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• defective alveolar bone mineralization
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• delayed formation of dentin in the incisor
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• runted at birth
(J:6711)
• smaller at birth
(J:100158)
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• surviving mutants exhibit shorter total body length life, with total length 84% of normal at 45 days of age
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homeostasis/metabolism
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• probably in response to reduced calcium stores in bone
(J:7673)
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limbs/digits/tail
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• deformities of all four limbs
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• mice exhibit severe skeletal deformities of all four limbs at birth, mainly consisting of bowing of the long bones
• surviving mice show gradual straightening of the long bones once they survive the neonatal period
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• humerus is short with irregular metaphyseal borders and poor corticomedullary demarcation
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bowed humerus
(
J:3906
)
short humerus
(
J:3906
)
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• humerus is reduced in length by about one-third; reduction is distal to the deltoid tuberosity
• proximal and distal segments grow at the same rate as in controls but remain smaller throughout life
• total length of the humerus is 64% of normal at 45 days of age
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bowed radius
(
J:3906
)
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• severe bowing of the radius and ulna is seen at birth, approaching right angles and occuring mid-shaft
• some surviving mice exhibit bowed radii
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• ulna is characterized by a long zone of increased ossification corresponding to the olecranon
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bowed ulna
(
J:3906
)
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• severe bowing of the radius and ulna is seen at birth, approaching right angles and occuring mid-shaf
• some surviving mice exhibit bowed ulnae
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short ulna
(
J:3906
)
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• proximal segment of the ulna has normal growth rate but little growth takes place postnatally at the distal end
• length of the ulna is 60% of normal at 45 days of age
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• femur is characterized by a constriction halfway along its length and rounding of the ends (dumbbell appearance) in both nonsurviving mice and most surviving mice
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short femur
(
J:3906
)
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• femur is crumpled and about 1/2 to 1/3 its normal length at birth
• from P1-P15, femur is shorter and transverse trabeculae are visible throughout the diaphysis, however it is not bowed
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• fibula is the least affected of the long bones, showing little bowing, crumbling or irregular ossification centers but is underossified
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• tibia has a crumbly texture with concertina appearance and is constricted at a point [?] from the distal end in nonsurviving mutants
• from P1-P15, tibia is bowed with thin cortices and broad metaphyses in surviving mutants
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bowed tibia
(
J:3906
)
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• surviving mutants show deformed tibiae, with variable degree of bowing
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skeleton
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• defective alveolar bone mineralization
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• delayed formation of dentin in the incisor
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• mice exhibit severe skeletal deformities of all four limbs at birth, mainly consisting of bowing of the long bones
• surviving mice show gradual straightening of the long bones once they survive the neonatal period
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• tibia, femur, and humerus are the most severely deformed bones
(J:3906)
• all long bones are short, curved and show fractures
(J:6711)
• multiple fractures of long bones at birth
(J:100158)
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• humerus is short with irregular metaphyseal borders and poor corticomedullary demarcation
|
bowed humerus
(
J:3906
)
bowed radius
(
J:3906
)
|
• severe bowing of the radius and ulna is seen at birth, approaching right angles and occuring mid-shaft
• some surviving mice exhibit bowed radii
|
|
• ulna is characterized by a long zone of increased ossification corresponding to the olecranon
|
bowed ulna
(
J:3906
)
|
• severe bowing of the radius and ulna is seen at birth, approaching right angles and occuring mid-shaf
• some surviving mice exhibit bowed ulnae
|
|
• femur is characterized by a constriction halfway along its length and rounding of the ends (dumbbell appearance) in both nonsurviving mice and most surviving mice
|
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• fibula is the least affected of the long bones, showing little bowing, crumbling or irregular ossification centers but is underossified
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• tibia has a crumbly texture with concertina appearance and is constricted at a point [?] from the distal end in nonsurviving mutants
• from P1-P15, tibia is bowed with thin cortices and broad metaphyses in surviving mutants
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bowed tibia
(
J:3906
)
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• surviving mutants show deformed tibiae, with variable degree of bowing
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• clavicle is frequently bowed at the sternal end
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• surviving mutants show a broad tibial metaphysis at P1-P15
• humerus exhibits an irregular metaphysis border
• bones show fewer trabeculae within the metaphysis
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• bones are also curved
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short humerus
(
J:3906
)
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• humerus is reduced in length by about one-third; reduction is distal to the deltoid tuberosity
• proximal and distal segments grow at the same rate as in controls but remain smaller throughout life
• total length of the humerus is 64% of normal at 45 days of age
|
short ulna
(
J:3906
)
|
• proximal segment of the ulna has normal growth rate but little growth takes place postnatally at the distal end
• length of the ulna is 60% of normal at 45 days of age
|
short femur
(
J:3906
)
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• femur is crumpled and about 1/2 to 1/3 its normal length at birth
• from P1-P15, femur is shorter and transverse trabeculae are visible throughout the diaphysis, however it is not bowed
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• scapulae are always bowed
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• the ischium is bowed at the midline
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• the pubis is bowed at the midline
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• ribs are wavy in mutants that die at or shortly after birth, exhibiting 1-3 bows along their length
• surviving mutants do not show wavy ribs or rib angulation deformities and tend to have rib cages of normal configuration
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• multiple fractures of ribs at birth
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short ribs
(
J:3906
)
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• from P1-P15, scapula appears normal in shape but is osteopenic
• P15 mutants exhibit persistent osteopenia, bowing of the forearm bones and angulation deformity of legs
• P45, mutants show slightly less bowing of forearms but still show persistent osteopenia
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• osteoblasts exhibit dilated rough endoplastic reticulum and the cisternae are more densely packed with particulate matter
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• the layers of the perichondrium/periosteum are more widely separated in in neonates than controls
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• bones show fewer trabeculae within the metaphysis and the collar is thickened on the inner side of the bone where bowing is present
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• initiation and progress is normal but osteoid
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• the layers of the perichondrium/periosteum are more widely separated in in neonates than controls
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• the growth line in some areas shows islands of cartilage adjacent to the zone of chondrosseous transformation
• bulk of the length of shortened bone is made up substantially of two enlarged growth plates
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• general organization of the growth plate is normal in 1 day old mutants, however the hypertrophic zone is wider, about 3-4 times that of the controls
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• skeleton of 1 day old mutants is poorly ossified throughout, including the skull vault, base, facial skeleton, vertebrae, ribs, sternum, and long bones
• ossification centers are irregular and occupy 1/5 of the entire length of the radius and ulna
• nonsurviving mice show skeletal defects similar to osteogenesis imperfecta, type IIA
• surviving mice show skeletal defects similar to osteogenesis imperfecta, type IIB or III
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• bone is severely undermineralized
(J:7673)
• matrix of developing bones is severely undermineralized
(J:100158)
• defective alveolar bone mineralization
(J:100158)
• severe tooth and alveolar bone abnormalities due to impaired mineralization
(J:100158)
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• sternum is normal in shape but fewer sternabrae are ossified
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• delay in ossification of a number of secondary ossification centers, with the olecranon, head of humerus, distal end of femur, proximal and distal ends of both the fibula and tibia appearing later
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reproductive system
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• mice are poor breeders
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respiratory system
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• mice that die are cyanotic and breathe in short irregular gasps
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craniofacial
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• defective alveolar bone mineralization
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• delayed formation of dentin in the incisor
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| osteogenesis imperfecta | DOID:12347 |
OMIM:PS166200 |
J:100158 | |
| osteogenesis imperfecta type 2 | DOID:0110341 |
OMIM:166210 |
J:3906 | |
| osteogenesis imperfecta type 3 | DOID:0110339 |
OMIM:259420 |
J:3906 | |
