Analysis Tools
mortality/aging
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• mice survive until P2
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• in rare cases, embryos die at E13.5, showing less developed all distal structures
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growth/size/body
cleft palate
(
J:213772
)
bifid tongue
(
J:213772
)
short tongue
(
J:213772
)
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• truncated tongue
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• less pointed nose at E13.5
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short snout
(
J:213772
)
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• shortened snout is seen as early as E15.5 and are more evident at P0
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kidney cyst
(
J:213772
)
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• 3 of 61 mutants (less than 5%) exhibit overt cystic kidneys at birth
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• mice are generally smaller at P0
• shortening of limb and snout are more pronounced than shortening of the body axis
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embryo
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• mutants show tissue distal truncation defects at P0
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• slight delay in neural tube closure at E10.5
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craniofacial
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• shortened dentary bones
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• shortened premaxillary bones
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cleft palate
(
J:213772
)
bifid tongue
(
J:213772
)
short tongue
(
J:213772
)
|
• truncated tongue
|
|
• less pointed nose at E13.5
|
short snout
(
J:213772
)
|
• shortened snout is seen as early as E15.5 and are more evident at P0
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cardiovascular system
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• disorganized cardiac myofibers
• myofibrils in the heart show twisted and shortened weaving pattern
• actin filaments in myofibrils are disorganized and misaligned and an increase of randomness in fiber orientation is seen
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• hearts show round cardiomyocyte nuclei in contrast to spindle-shaped nuclei of controls, indicating loss of polarity
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• heart at E14.5 shows transposition of pulmonary and aorta arteries with shorted apex-base axis in more than half of mutants
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• arterial septum is open
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digestive/alimentary system
cleft palate
(
J:213772
)
bifid tongue
(
J:213772
)
short tongue
(
J:213772
)
|
• truncated tongue
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hearing/vestibular/ear
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• stereociliary actin bundles of hair cells are shorter and splayed at the tip
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• stereociliary actin bundles of hair cells are shorter
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integument
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• hair follicles are less developed and less organized at P2
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• hair orientation defect
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limbs/digits/tail
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• digit tips are blunted
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• absent or delayed ossification centers of phalangeal bones
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short limbs
(
J:213772
)
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• shortened limbs are seen as early as E15.5 and are more evident at P0
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• shortened forelimb at E13.5
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short tail
(
J:213772
)
muscle
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• disorganized cardiac myofibers
• myofibrils in the heart show twisted and shortened weaving pattern
• actin filaments in myofibrils are disorganized and misaligned and an increase of randomness in fiber orientation is seen
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nervous system
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• slight delay in neural tube closure at E10.5
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• stereociliary actin bundles of hair cells are shorter and splayed at the tip
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• stereociliary actin bundles of hair cells are shorter
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• at P0
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• malformed striatum at P0
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• misshaped hippocampus at P0
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• failure of innervation of trigeminal (V) and facial (VII) nerves
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• the thalamic-cortical axon tract is disorganized
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renal/urinary system
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• blood spots are frequently seen on the surface of the kidney
• however kidney size appears normal
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kidney cyst
(
J:213772
)
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• 3 of 61 mutants (less than 5%) exhibit overt cystic kidneys at birth
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• irregular elliptical shape of collecting ducts
• impaired cell connection/arrangement in the collecting ducts
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• distorted renal tubule shape
• disorganization of the kidney tubules, with most cuboidal epithelial cells appearing irregular with more quadrilateral and pentagon shapes rather than hexagons as in controls, indicating impaired cell connection/arrangement in the renal tubules
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• proximal convoluted tubules appear distorted, with narrowing in the outer renal cortex but widening of the inner renal cortex
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• dilated renal tubules in the renal cortex
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• actin distribution is shifted more laterally in the ureteric buds
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respiratory system
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• less pointed nose at E13.5
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skeleton
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• shortened dentary bones
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• shortened premaxillary bones
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• absent or delayed ossification centers of phalangeal bones
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• shorter but thicker long bones (scapula, humerus, radius, ulna)
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• shorter but thicker long bones (scapula, humerus, radius, ulna)
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• marker analysis indicates that the cell polarity machinery in chondrocytes is perturbed
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• absent or delayed ossification centers of phalangeal bones
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vision/eye
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• delayed eyelid closure at E15.5 and eyelids are open at P0
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