Analysis Tools
mortality/aging
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• reduced viability
(J:14233)
• heterozygotes that develop hydroencephaly rapidly die
(J:39106)
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• fewer than expected heterozygotes at birth
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cellular
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• some males have reduced sperm counts: however, this does not correlate with infertility
• mean sperm counts are about half of normal but sperm counts vary widely between individuals
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limbs/digits/tail
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• limbs are thicker dorsoventrally, this appears to be secondary to formation of extra digits
• limb mesenchyme is disorganized with a larger extracellular matrix volume compared to wild-type
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• abnormally wide by E11.5
(J:39106)
• by late E10 limbs appear slightly enlarged along the anterior posterior axis; however, at E13 limb length appears normal
(J:50164)
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• abnormally broad at E12.5
(J:39106)
• the feet are abnormally broad and the soles appear swollen and abnormally smooth
(J:39106)
• by E12 the hand and foot plates are greatly enlarged along the anterior posterior axis exclusively on the preaxial aspect of the limb
(J:50164)
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• duplication of carpal bones to the same extent as the increase in digit number
• at E15 the carpus and tarsus consist of 2 rows of indistinct, contiguous elements unlike in wild-type where these elements are discrete and readily identifiable
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• digits are in a fan-shaped array
• all digits are the same length, lack anteroposterior polarity, and show greater separation than wild-type
• 1 in 4 digits are bifurcated and 1 in 8 mice have an interdigital digit
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• fore feet have 6 to 9 toes and hind feet have 5 to 8 toes, mostly arranged in a single group although a few mice have toes arranged in 2 groups
(J:39106)
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• in some cases 2 or more toes have interdigital webbing
(J:39106)
• by E13 condensing models for more than 5 digits are seen on the fore and hind limbs and at E14 interdigital webbing persists
(J:50164)
• this webbing persists in some heterozygotes through E17
(J:50164)
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• enlarged ventral footpad
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• duplication of tarsal bones to the same extent as the increase in digit number
• at E15 the carpus and tarsus consist of 2 rows of indistinct, contiguous elements unlike in wild-type where these elements are discrete and readily identifiable
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• deformities in the tibia and fibula result in dislocation of the ankle joint such that the ankle bone rather than the toes rest on the ground
(J:39106)
• in some cases deformities in the radius and ulna result in dislocation of the wrist joint such that the wrist rests on the ground
(J:39106)
• seen mainly in the hind feet in extreme cases heterozygotes walk on the outer border of the ankle
(J:50164)
• a few adults also show a slight rotational defect in the forefeet
(J:50164)
|
bowed radius
(
J:39106
)
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• in some cases the radius is bent
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bowed ulna
(
J:39106
)
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• in some cases the ulna is bent
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• appear twisted
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• the tibia and fibula fail to fuse
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• bowed, probably the result of shortening of the tibia
(J:50164)
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• the tibia and fibula fail to fuse
(J:39106)
• the tibia has separate proximal and distal sites of chondrogenesis that fuse by E15 but are poorly aligned
(J:50164)
• the tibia curves helically around the longitudinal axis and the distal end makes an incomplete, medially situated articulation
(J:50164)
• however, the radius and ulna and the rest of the cartilaginous skeleton are normal
(J:50164)
|
bowed tibia
(
J:39106
)
short tibia
(
J:50164
)
|
• in most cases kinks are the result of soft tissue abnormalities although in a few mice bony kinks are also present
(J:39106)
|
craniofacial
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• at E13 the cranifacial region appears more bulbous than in wild-type mice
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Wormian bones
(
J:50164
)
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• a supernumerary element (Wormian bone) is found in the anterior fontanelle
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• a supernumerary element (Wormian bone) is found in the anterior fontanelle
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• wider than normal
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• wider than normal
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• broader in the frontal region
(J:39106)
• skull is broader and more bulbous
(J:50164)
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• a small gap between the frontal bones filled with an interfrontal bone is commonly seen
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broad snout
(
J:50164
)
|
• broad snout
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growth/size/body
broad snout
(
J:50164
)
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• broad snout
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• seen at E13
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• weight is similar at birth but by 18 days of age heterozygotes weigh about 25% less than wild-type littermates
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nervous system
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• seen in some but not all heterozygotes
(J:14233)
• some heterozygotes develop hydroencephaly at any age between 2-3 weeks and a few months
(J:39106)
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• at E10 a midline bulge is visible in the roof of the diencephalon
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reproductive system
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• some males have reduced sperm counts: however, this does not correlate with infertility
• mean sperm counts are about half of normal but sperm counts vary widely between individuals
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|
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(J:14233)
(J:39106)
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• vaginal opening occurs at 7 - 8 weeks of age
(J:39106)
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 |
• no normal cycles are detected
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• females are usually fertile but have smaller litters when crossed to wild-type mice
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infertility
(
J:14233
)
|
• some, but not all, heterozygotes are sterile
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|
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• only 18 of 46 females became pregnant in crosses with heterozygous males previously determined to be fertile
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• 78 of 152 males are sterile and 29 of the remaining 74 are only fertile for a short time
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behavior/neurological
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• sometime mice display a hunched posture without any underlying bony abnormalities of the vertebra or ribs
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vision/eye
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• eyes are generally half-closed
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skeleton
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• occasionally the cervical-cranial angle is reduced
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Wormian bones
(
J:50164
)
|
• a supernumerary element (Wormian bone) is found in the anterior fontanelle
|
|
• a supernumerary element (Wormian bone) is found in the anterior fontanelle
|
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• wider than normal
|
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• wider than normal
|
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• broader in the frontal region
(J:39106)
• skull is broader and more bulbous
(J:50164)
|
|
• a small gap between the frontal bones filled with an interfrontal bone is commonly seen
|
|
• duplication of carpal bones to the same extent as the increase in digit number
• at E15 the carpus and tarsus consist of 2 rows of indistinct, contiguous elements unlike in wild-type where these elements are discrete and readily identifiable
|
|
• duplication of tarsal bones to the same extent as the increase in digit number
• at E15 the carpus and tarsus consist of 2 rows of indistinct, contiguous elements unlike in wild-type where these elements are discrete and readily identifiable
|
bowed radius
(
J:39106
)
|
• in some cases the radius is bent
|
bowed ulna
(
J:39106
)
|
• in some cases the ulna is bent
|
|
• the tibia and fibula fail to fuse
|
|
• bowed, probably the result of shortening of the tibia
(J:50164)
|
|
• the tibia and fibula fail to fuse
(J:39106)
• the tibia has separate proximal and distal sites of chondrogenesis that fuse by E15 but are poorly aligned
(J:50164)
• the tibia curves helically around the longitudinal axis and the distal end makes an incomplete, medially situated articulation
(J:50164)
• however, the radius and ulna and the rest of the cartilaginous skeleton are normal
(J:50164)
|
bowed tibia
(
J:39106
)
|
• long bone are shortened and reduced
(J:14233)
• long bones are shortened
(J:39106)
|
short tibia
(
J:50164
)
|
• occasionally a hole is seen in the scapula
(J:39106)
• at E17, a hole is sometimes seen in the scapula; however, no hole is seen in mice older then E17
(J:50164)
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• occasionally the ribcage is slightly compressed
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• occasionally 7 rather than 6 lumber vertebrae are present
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endocrine/exocrine glands
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(J:14233)
(J:39106)
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embryo
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• seen at E13
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• abnormally wide by E11.5
(J:39106)
• by late E10 limbs appear slightly enlarged along the anterior posterior axis; however, at E13 limb length appears normal
(J:50164)
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| clubfoot | DOID:11836 |
OMIM:119800 |
J:39106 | |
