Analysis Tools
mortality/aging
|
• number of homozygotes recovered at birth is about 17% of expected numbers
|
|
• viability of embryos show significant decrease around day 9 of gestation
|
embryo
|
• enlarged, particularly the mandibular arch at 9 days of gestation
|
|
• enlarged at 9 days of gestation
|
|
• anterior limb buds have abnormal morphology at 9 days
• at 12 days, bud is much wider than normal and inter-digit indentations are less distinct
• preaxial and postaxial enlargement is observed in hind- and fore-limb at 12 days
|
|
• increased in size compared to wild-type
|
|
• at day 9 of gestation, neural tube may remain open unlike in wild-type embryos
|
|
• greatly enlarged relative to wild-type, except rhombomere 5 which is constrained by the otic vesicles
|
|
• if neural tube is closed at 9 days, tube is wavy from behind otic vesicle to level of forelimb bud
|
limbs/digits/tail
|
• anterior limb buds have abnormal morphology at 9 days
• at 12 days, bud is much wider than normal and inter-digit indentations are less distinct
• preaxial and postaxial enlargement is observed in hind- and fore-limb at 12 days
|
|
• increased in size compared to wild-type
|
polydactyly
(
J:5049
)
|
• number of complete digits may be as high as eight or nine
• pre- and post-axial extra digits can be seen on feet at 14 days gestation
|
syndactyly
(
J:5049
)
|
• separation between digits is less complete and digits may be webbed at 15 days gestation
|
|
• bilateral defect of tibia is generally seen
• pre- and post-axial extra digits can be seen on feet at 14 days gestation
|
|
• variable amount of fusion between carpals
|
|
• terminal phalanx of finger or toe frequently is partially or completely duplicated
|
|
• variable amount of fusion between tarsals
|
absent radius
(
J:5049
)
|
• radius may be only rudimentary observed as knob of bone, resulting in hemimelia, at 15 days
|
short femur
(
J:5049
)
|
• femur is short and thick at 15 days
|
bowed fibula
(
J:5049
)
|
• bowed in severely affected animals
|
absent tibia
(
J:5049
)
|
• represented only by a proximal bone knob, resulting in hemimelia that does not show any left/right bias
|
|
• may be split distally
|
|
• may be split distally
|
skeleton
|
• structure of nasal cartilages is more complex than in wild-type
• paraseptal cartilages are deformed
|
|
• variable amount of fusion between carpals
|
|
• variable amount of fusion between tarsals
|
|
• terminal phalanx of finger or toe frequently is partially or completely duplicated
|
absent radius
(
J:5049
)
|
• radius may be only rudimentary observed as knob of bone, resulting in hemimelia, at 15 days
|
short femur
(
J:5049
)
|
• femur is short and thick at 15 days
|
bowed fibula
(
J:5049
)
|
• bowed in severely affected animals
|
absent tibia
(
J:5049
)
|
• represented only by a proximal bone knob, resulting in hemimelia that does not show any left/right bias
|
|
• may be split distally
|
|
• may be split distally
|
|
• at 15 days gestation, Os pubis may be distorted
|
|
• at 15 days gestation, there is complete division into anterior and posterior parts by failure of hyphophysial cartilage and trabecular region of the central stem to unite
|
|
• skulls have an interfrontal bone with high incidence compared to wild-type littermates; in majority of cases, bone is larger in mutant mice than in wild-type
|
|
• at 15 days, alae orbitales are heavy and help to form broad pan that the cerebral hemispheres rest on
|
|
• at 11 days, ectoderm of anterior face of process is thicker than in wild-type
• at 12 days, process may have grown forward over eye, partially obscuring it
|
|
• unlike normal embryos, at day 18 of gestation homozygotes still display C-shaped spine rather than normal S-shape; C shape is retained and accentuated and is observed in newborn animals
|
|
• neural arches of cervical vertebrae tend to fuse with adjacent vertebrae in embryos at 15 days gestation
|
nervous system
|
• at day 9 of gestation, neural tube may remain open unlike in wild-type embryos
|
|
• greatly enlarged relative to wild-type, except rhombomere 5 which is constrained by the otic vesicles
|
|
• if neural tube is closed at 9 days, tube is wavy from behind otic vesicle to level of forelimb bud
|
|
• brain of newborns is twisted on its major axis
|
|
• mesencephalon has bulging appearance in newborn animals
• corpora quadrigemina are abnormally divided laterally in newborn animals
• at 14-16 days gestation, mesencephalon may be exposed; if this is seen, embryos are always anemic and amniotic fluid is bloody
|
|
• forepart of head is abnormal due to lack of expansion of forebrain at day 9
|
|
• absent
|
|
• at 9 days, walls of telencephalon are closely approximated
|
|
• in newborn, cerebral hemispheres are small and partially obscured by mesencephalon; cerebral hemispheres contain groups of pyknotic cells
• hemispheres are separated by a fluid-filled space extending back to cerebellum
• at 11 days gestation, no invagination between putative cerebral hemispheres has occurred
|
|
• nerves pass through cribiform plate, then turn cephalad and terminate in a space filled with connective tissue ahead of cerebral hemispheres
|
|
• if neural tube is closed at 9 days, roof of rhombencephalon is abnormally spade-shaped
• at day 10, hindbrain may still be open
• at 13 days, distended hindbrain gives embryo hunch-backed appearance
|
|
• twisted in newborn animals
|
|
• retains undifferentiated folded form in newborns
|
|
• at 13 days, seventh and cochlear part of eighth cranial ganglia are enlarged
|
|
• nerves are much larger than in wild-type at birth
• at 12 days gestation, nerves are less developed than in wild-type
|
|
• ventrally, optic chiasma is ill-defined; in some animals optic chiasma is absent
|
vision/eye
|
• at 15 days, alae orbitales are heavy and help to form broad pan that the cerebral hemispheres rest on
|
|
• ventrally, optic chiasma is ill-defined; in some animals optic chiasma is absent
|
|
• in some newborns, eyes may be pigmented hollow ball containing a lens rudiment or may only be a pigment mass
• at 12 days, eyes are reduced and rotated ventrally
|
|
• at 11 days, optic cups are small; in some embryos, cup has lost contact with endoderm and is filled with mesoderm
|
|
• lumen is constricted at 9 days
• at 11 days gestation, lumen is broad
|
|
• not oriented parallel to midline at 9 days
• at 10 days, vesicles are still flattened
• lens induction occurs only posteriorly
|
microphthalmia
(
J:5049
)
|
• at birth, eyes may be only half diameter of wild-type eyes
|
|
• in newborn animals, eyelids remain closed
• at 14 -16 days gestation there is premature partial eyelid closure
|
|
• retina is very thick, surrounding entire lens
|
retina fold
(
J:5049
)
|
• retinae exhibit folding in some newborns
|
anophthalmia
(
J:5049
)
|
• in some newborns, no evidence of eye tissue is observed
|
craniofacial
|
• at 15 days gestation, there is complete division into anterior and posterior parts by failure of hyphophysial cartilage and trabecular region of the central stem to unite
|
|
• skulls have an interfrontal bone with high incidence compared to wild-type littermates; in majority of cases, bone is larger in mutant mice than in wild-type
|
|
• at 15 days, alae orbitales are heavy and help to form broad pan that the cerebral hemispheres rest on
|
|
• at 11 days, ectoderm of anterior face of process is thicker than in wild-type
• at 12 days, process may have grown forward over eye, partially obscuring it
|
|
• more extensive than in wild-type at 10 days
|
|
• enlarged, particularly the mandibular arch at 9 days of gestation
|
|
• enlarged at 9 days of gestation
|
|
• forehead is abnormal at 10 days of gestation
|
|
• anterior part is compressed between abnormally large maxillae and premaxillae in newborn animals
• posterior nasal region is broad and flat
• external nasal processes are reduced in size at 10 days of gestation
|
|
• structure of nasal cartilages is more complex than in wild-type
• paraseptal cartilages are deformed
|
|
• dorsal part of nasal chamber may be almost obliterated, with ectodermal lining represented by a strip of tissue
• at 12 days, nasal arch is flatter and nasal chamber is partially occluded
|
|
• septum is broad and short, and paraseptal cartilages are deformed
|
|
• epithelium displays a series of folds, which raises it from the underlying cartilage
|
hearing/vestibular/ear
|
• evagination in wall of presumptive utricular region is absent in mutants at 13 days gestation
|
|
• otic vesicles are situated more dorsally than in wild-type at 9 days and may remain open to exterior
|
|
• in newborns, lumen present only posteriorly and anteriorly, where it joins ampulla; in intervening region, it is seen only as a solid strand of tissue or non-cartilaginous region of the capsule
|
|
• poorly differentiated at 15 days gestation
|
cardiovascular system
|
• veins are slightly enlarged and run laterally to otic vesicles, not ventrolaterally as in wild-type
|
|
• at day 10 pericardium is swollen and often displaced
|
hemorrhage
(
J:5049
)
|
• oval blood clot is visible in frontal region of head in some embryos at 14 days
|
taste/olfaction
|
• more extensive than in wild-type at 10 days
|
|
• epithelium displays a series of folds, which raises it from the underlying cartilage
|
renal/urinary system
|
• in all mutants kidneys are irregular in outline, but no histological abnormalities are observed
|
respiratory system
|
• more extensive than in wild-type at 10 days
|
|
• anterior part is compressed between abnormally large maxillae and premaxillae in newborn animals
• posterior nasal region is broad and flat
• external nasal processes are reduced in size at 10 days of gestation
|
|
• structure of nasal cartilages is more complex than in wild-type
• paraseptal cartilages are deformed
|
|
• dorsal part of nasal chamber may be almost obliterated, with ectodermal lining represented by a strip of tissue
• at 12 days, nasal arch is flatter and nasal chamber is partially occluded
|
|
• septum is broad and short, and paraseptal cartilages are deformed
|
|
• epithelium displays a series of folds, which raises it from the underlying cartilage
|
endocrine/exocrine glands
|
• visceral ectopia is frequently observed; abnormal placement of adrenal glands is exhibited
|
|
• absent
|
 |
• at 13 days, number of visible nipples is reduced from 4 pairs to 2 pairs
|
|
• partially fills orbit of eyes in some newborns as result of hyperplasia, when normal eye tissue is reduced or absent
|
ectopic ovary
(
J:5049
)
|
|
• visceral ectopia is frequently observed; females often show ectopic placement of the ovaries
• visceral organs show no histological abnormalities
|
homeostasis/metabolism
skin edema
(
J:5049
)
|
• at day 13 of gestation, embryos show considerable subcutaneous edema
• edema is still observed at 14 and 15 days of gestation; at 15 days, edema is less pronounced but skin appears taut
|
growth/size/body
|
• skulls have an interfrontal bone with high incidence compared to wild-type littermates; in majority of cases, bone is larger in mutant mice than in wild-type
|
|
• at 11 days, ectoderm of anterior face of process is thicker than in wild-type
• at 12 days, process may have grown forward over eye, partially obscuring it
|
|
• forehead is abnormal at 10 days of gestation
|
|
• anterior part is compressed between abnormally large maxillae and premaxillae in newborn animals
• posterior nasal region is broad and flat
• external nasal processes are reduced in size at 10 days of gestation
|
|
• structure of nasal cartilages is more complex than in wild-type
• paraseptal cartilages are deformed
|
|
• dorsal part of nasal chamber may be almost obliterated, with ectodermal lining represented by a strip of tissue
• at 12 days, nasal arch is flatter and nasal chamber is partially occluded
|
|
• septum is broad and short, and paraseptal cartilages are deformed
|
|
• epithelium displays a series of folds, which raises it from the underlying cartilage
|
omphalocele
(
J:5049
)
|
• at 13 days gestation, embryos display enlarged umbilical hernia that includes part of liver
|
integument
|
|
• at 13 days, number of visible nipples is reduced from 4 pairs to 2 pairs
|
skin edema
(
J:5049
)
|
• at day 13 of gestation, embryos show considerable subcutaneous edema
• edema is still observed at 14 and 15 days of gestation; at 15 days, edema is less pronounced but skin appears taut
|
|
• at 13 days, forehead and nose exhibit irregular array of epidermal papillae (sensory hairs)
|
reproductive system
ectopic ovary
(
J:5049
)
|
|
• visceral ectopia is frequently observed; females often show ectopic placement of the ovaries
• visceral organs show no histological abnormalities
|
