Analysis Tools
mortality/aging
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• die shortly after birth
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respiratory system
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• 56% show dysplasia of the nasal septum form an ectopic cavity in the nasal septum
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• homozygotes delivered by Caesarean section at E18.5 do not start breathing and die of cyanosis
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skeleton
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• the basisphenoid bone is deformed
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• hyperplasic Meckel's cartilage is noticeable at E14.5
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• the pterygoid bones are deformed
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• the angular processes in the mandible is hypoplastic
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• the condylar processes in the mandible are hypoplastic
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• the coronoid processes in the mandible are hypoplastic
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short maxilla
(
J:45575
)
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• short distal maxilla
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• hypoplasia of the palate bones
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• in 94% of mutants, three of the carpal bones (d2, d3, and c) do not exist as separate structures but as a single large fused bone at E15.5-18.5
• d4a and d4b carpal bones, which normally fuse to form d4 at E15, are separated in 56% of E15.5-18.5 mutants
• in the forelimbs, the central carpal bone precursor is reduced and d4 is hyperplastic at E14.5
• d2c is fused with d3 at E14.5
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• endochondral ossification of phalange 1 (P1) and ossification at the distal end of P3 does not occur at E18.5
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• cuneiform 2 and 3 are replaced by a large bone in 100% of E15.5-18.5 mutants
• 100% show fusion of the navicular and talus and that of metatarsal I and cuneiform I in digit I
• in the hindlimb, cuneiform 2 is hypoplastic and already fused with cuneiform 3 at E14.5
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• the navicular is hypoplastic and dislocated near the talus at E14.5
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• 100% exhibit fusion of joint components in the elbow where the humerus and the ulna or radius are fused such that a characteristic joint structure does not form
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bowed radius
(
J:45575
)
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• radius is curved
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• 100% exhibit fusion of joint components in the hip where the femur and os coxae are fused
• however, shoulder joints appear normal
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bowed tibia
(
J:45575
)
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• tibia is curved
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• the position of the patella is shifted more medially in 81% of mutants
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• 100% show fusion of metatarsal I and cuneiform I in digit I
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• long bones in the stylopod and zeugopod are shorter and appear slightly thicker
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• in the autopod, growth of phalanges (P1, P2, P3) in fore- and hindlimbs is severely attenuated
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short scapula
(
J:45575
)
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• sternocostal junctions are irregular in 67% of mutants
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• 100% exhibit sternebrae with split ossification centers
• 67% exhibit asymmetric ossification pattern of the sternebrae
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• xiphoid processes are almost lost
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short sternum
(
J:45575
)
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• sternum is shorter at E18.5 in 100% of mutants
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• exhibit irregular expansion of the distal portion of rib cartilage precursor at E15, causing rib fusion
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rib fusion
(
J:45575
)
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• 78% exhibit rib fusion between T5 and T8 levels without bilateral symmetry due to anomalous processes in the distal region of the ribs
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• severe hypoplasia
• cell number of nucleus pulposus is significantly reduced
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• endochondral ossification of phalange 1 (P1) and ossification at the distal end of P3 does not occur at E18.5
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craniofacial
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• the basisphenoid bone is deformed
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• hyperplasic Meckel's cartilage is noticeable at E14.5
|
|
• the pterygoid bones are deformed
|
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• the angular processes in the mandible is hypoplastic
|
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• the condylar processes in the mandible are hypoplastic
|
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• the coronoid processes in the mandible are hypoplastic
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short maxilla
(
J:45575
)
|
• short distal maxilla
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• hypoplasia of the palate bones
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• E18.5 mutants have a cleft in the secondary palate
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• 56% show dysplasia of the nasal septum form an ectopic cavity in the nasal septum
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growth/size/body
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• hypoplasia of the palate bones
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• E18.5 mutants have a cleft in the secondary palate
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• 56% show dysplasia of the nasal septum form an ectopic cavity in the nasal septum
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• growth retardation becomes evident around E15
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cardiovascular system
hemorrhage
(
J:45575
)
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• 5% of embryos show internal bleeding in the nasal region at E13.5-18.5
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hematopoietic system
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• E18.5 homozygotes exhibit small hypocellular thymi with no distinction of medulla and cortex
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• total number of thymocytes at E18.5 is reduced to 1/10 of controls
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homeostasis/metabolism
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• 52% exhibit edema at midgestation (E13.5-16.5)
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immune system
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• E18.5 homozygotes exhibit small hypocellular thymi with no distinction of medulla and cortex
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• total number of thymocytes at E18.5 is reduced to 1/10 of controls
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limbs/digits/tail
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• in 94% of mutants, three of the carpal bones (d2, d3, and c) do not exist as separate structures but as a single large fused bone at E15.5-18.5
• d4a and d4b carpal bones, which normally fuse to form d4 at E15, are separated in 56% of E15.5-18.5 mutants
• in the forelimbs, the central carpal bone precursor is reduced and d4 is hyperplastic at E14.5
• d2c is fused with d3 at E14.5
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• endochondral ossification of phalange 1 (P1) and ossification at the distal end of P3 does not occur at E18.5
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• in the autopod, growth of phalanges (P1, P2, P3) in fore- and hindlimbs is severely attenuated
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syndactyly
(
J:45575
)
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• fusion of phalanges 1 (P1) and P2 in digits III and IV of the forelimb is detected in some mutants
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• cuneiform 2 and 3 are replaced by a large bone in 100% of E15.5-18.5 mutants
• 100% show fusion of the navicular and talus and that of metatarsal I and cuneiform I in digit I
• in the hindlimb, cuneiform 2 is hypoplastic and already fused with cuneiform 3 at E14.5
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• the navicular is hypoplastic and dislocated near the talus at E14.5
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• 100% exhibit fusion of joint components in the elbow where the humerus and the ulna or radius are fused such that a characteristic joint structure does not form
|
bowed radius
(
J:45575
)
|
• radius is curved
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• 100% exhibit fusion of joint components in the hip where the femur and os coxae are fused
• however, shoulder joints appear normal
|
bowed tibia
(
J:45575
)
|
• tibia is curved
|
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• the position of the patella is shifted more medially in 81% of mutants
|
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• 100% show fusion of metatarsal I and cuneiform I in digit I
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short limbs
(
J:45575
)
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• 100% exhibit short and dumpy limbs at E12.5-E18.5
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curly tail
(
J:45575
)
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• 89% exhibit curled tails at E12.5-18.5
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nervous system
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• 1% and 4% show failure of spinal cord closure in the cranial and caudal ends, respectively
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exencephaly
(
J:45575
)
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• 3% of embryos show exencephaly at E13.5-18.5
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hearing/vestibular/ear
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• subtle constriction of the midportion of the lateral semicircular canal
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endocrine/exocrine glands
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• E18.5 homozygotes exhibit small hypocellular thymi with no distinction of medulla and cortex
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• total number of thymocytes at E18.5 is reduced to 1/10 of controls
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• number of serous glands is decreased
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digestive/alimentary system
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• hypoplasia of the palate bones
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• E18.5 mutants have a cleft in the secondary palate
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embryo
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• 1% and 4% show failure of spinal cord closure in the cranial and caudal ends, respectively
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