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Allele Symbol Allele Name Allele ID |
Gli3Xt extra toes MGI:1856275 |
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| Summary |
15 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• digit 2 of the forelimb has only two phalanges and digit 2 of the hindlimb is shorter
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• at birth, some autopods exhibit duplicated but fused digit and third metatarsal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• pituitary gland develops normally from floor of third ventricle
• chiasmatic recess develops normally
• mesencephalon does not appear enlarged relative to wild-type at 13.5 and 14.5 days of gestation
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• anterior neuropore is still open to variable extent on day 11.5 of gestation in some embryos
• some embryos show normal closure while others display persistent open anterior neural folds spanning region of anterior neuropore to mesencephalon
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• on day 13.5 of gestation, anterior neuropore remains open and brain ventricles openly communicate with the amniotic sac
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• loss of diagnostic morphology of isthmus
• anterior isthmus region with characteristics of the cerebellum
• thicker than normal Purkinje region and axons disorganized
• dorsal mesencephalon, isthmus, and r1 not distinct at E10.5 and E12.5
• isthmus flexure less prominent
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• in embryos with closed anterior neuropore, forebrain does not show anlage of a choroid plexus in telencephalon
• small unpaired choroid plexus is found in the circumference of an opening in dorsal wall of diencephalon, not associated with origin of telencephalic anlagen from diencephalon
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• tegmentum unaffected
• ventral nuclei containing dopaminergic neurons appear normal
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• expanded mesencephalic ventricle at E10.5 and E12.5
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• poorly formed
• loss of diagnostic morphology
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• loss of diagnostic morphology
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• overgrown tectum
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• on day 13.5, no choroid plexus is developing in forebrain
• hemispheres do not show any posterior elongation
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• in embryos with closed anterior neuropore, anlage of a choroid plexus is missing from telencephalon
• telencephalon is represented by a broad-based lateral bulging from the median portion of the forebrain and does not display elongation posteriorly
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• in embryos with closed anterior neuropore, forebrain does not show normal interhemispheric cleft
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• display poorly defined origin that opens wide into the median third ventricle
• smaller than wild-type on day 13.5 of gestation
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• at E15.5-16.5, cerebral hemispheres have very narrow rugged ventricles and do not show any lamination or cellular organization of the hemispheric walls
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• bulb does not develop
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• thickness of ventricular zone increased
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• not clearly separated from the isthmus at E18.5
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• poorly foliated
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• thicker than normal
• axons disorganized in lateral regions
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• anterior neuropore is still open to variable extent on day 11.5 of gestation in some embryos
• some embryos show normal closure while others display persistent open anterior neural folds spanning region of anterior neuropore to mesencephalon
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• on day 13.5 of gestation, anterior neuropore remains open and brain ventricles openly communicate with the amniotic sac
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• loss of diagnostic morphology of isthmus
• anterior isthmus region with characteristics of the cerebellum
• thicker than normal Purkinje region and axons disorganized
• dorsal mesencephalon, isthmus, and r1 not distinct at E10.5 and E12.5
• isthmus flexure less prominent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• viability of embryos show significant decrease around day 9 of gestation
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• number of homozygotes recovered at birth is about 17% of expected numbers
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• enlarged, particularly the mandibular arch at 9 days of gestation
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• enlarged at 9 days of gestation
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• 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
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• increased in size compared to wild-type
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• at day 9 of gestation, neural tube may remain open unlike in wild-type embryos
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• greatly enlarged relative to wild-type, except rhombomere 5 which is constrained by the otic vesicles
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• if neural tube is closed at 9 days, tube is wavy from behind otic vesicle to level of forelimb bud
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• 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
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• increased in size compared to wild-type
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• 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
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• separation between digits is less complete and digits may be webbed at 15 days gestation
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• bilateral defect of tibia is generally seen
• pre- and post-axial extra digits can be seen on feet at 14 days gestation
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• variable amount of fusion between carpals
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• terminal phalanx of finger or toe frequently is partially or completely duplicated
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• variable amount of fusion between tarsals
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• radius may be only rudimentary observed as knob of bone, resulting in hemimelia, at 15 days
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• femur is short and thick at 15 days
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• bowed in severely affected animals
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• represented only by a proximal bone knob, resulting in hemimelia that does not show any left/right bias
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• may be split distally
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• may be split distally
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• structure of nasal cartilages is more complex than in wild-type
• paraseptal cartilages are deformed
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• variable amount of fusion between carpals
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• variable amount of fusion between tarsals
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• terminal phalanx of finger or toe frequently is partially or completely duplicated
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• radius may be only rudimentary observed as knob of bone, resulting in hemimelia, at 15 days
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• femur is short and thick at 15 days
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• bowed in severely affected animals
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• represented only by a proximal bone knob, resulting in hemimelia that does not show any left/right bias
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• may be split distally
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• may be split distally
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• at 15 days gestation, Os pubis may be distorted
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• 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
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• 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
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• at 15 days, alae orbitales are heavy and help to form broad pan that the cerebral hemispheres rest on
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• 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
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• 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
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• neural arches of cervical vertebrae tend to fuse with adjacent vertebrae in embryos at 15 days gestation
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• at day 9 of gestation, neural tube may remain open unlike in wild-type embryos
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• greatly enlarged relative to wild-type, except rhombomere 5 which is constrained by the otic vesicles
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• if neural tube is closed at 9 days, tube is wavy from behind otic vesicle to level of forelimb bud
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• brain of newborns is twisted on its major axis
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• 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
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• forepart of head is abnormal due to lack of expansion of forebrain at day 9
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• absent
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• at 9 days, walls of telencephalon are closely approximated
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• 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
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• nerves pass through cribiform plate, then turn cephalad and terminate in a space filled with connective tissue ahead of cerebral hemispheres
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• 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
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• twisted in newborn animals
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• retains undifferentiated folded form in newborns
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• at 13 days, seventh and cochlear part of eighth cranial ganglia are enlarged
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• nerves are much larger than in wild-type at birth
• at 12 days gestation, nerves are less developed than in wild-type
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• ventrally, optic chiasma is ill-defined; in some animals optic chiasma is absent
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• at 15 days, alae orbitales are heavy and help to form broad pan that the cerebral hemispheres rest on
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• ventrally, optic chiasma is ill-defined; in some animals optic chiasma is absent
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• 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
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• at 11 days, optic cups are small; in some embryos, cup has lost contact with endoderm and is filled with mesoderm
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• lumen is constricted at 9 days
• at 11 days gestation, lumen is broad
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• not oriented parallel to midline at 9 days
• at 10 days, vesicles are still flattened
• lens induction occurs only posteriorly
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• at birth, eyes may be only half diameter of wild-type eyes
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• in newborn animals, eyelids remain closed
• at 14 -16 days gestation there is premature partial eyelid closure
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• retina is very thick, surrounding entire lens
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• retinae exhibit folding in some newborns
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• in some newborns, no evidence of eye tissue is observed
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• 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
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• 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
|
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• 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
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• more extensive than in wild-type at 10 days
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• enlarged, particularly the mandibular arch at 9 days of gestation
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• enlarged at 9 days of gestation
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• forehead is abnormal at 10 days of gestation
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• 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
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• structure of nasal cartilages is more complex than in wild-type
• paraseptal cartilages are deformed
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• 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
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• septum is broad and short, and paraseptal cartilages are deformed
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• epithelium displays a series of folds, which raises it from the underlying cartilage
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• evagination in wall of presumptive utricular region is absent in mutants at 13 days gestation
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• otic vesicles are situated more dorsally than in wild-type at 9 days and may remain open to exterior
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• 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
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• poorly differentiated at 15 days gestation
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• veins are slightly enlarged and run laterally to otic vesicles, not ventrolaterally as in wild-type
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• at day 10 pericardium is swollen and often displaced
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• oval blood clot is visible in frontal region of head in some embryos at 14 days
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• more extensive than in wild-type at 10 days
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• epithelium displays a series of folds, which raises it from the underlying cartilage
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• in all mutants kidneys are irregular in outline, but no histological abnormalities are observed
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• more extensive than in wild-type at 10 days
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• 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
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• structure of nasal cartilages is more complex than in wild-type
• paraseptal cartilages are deformed
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• 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
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• septum is broad and short, and paraseptal cartilages are deformed
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• epithelium displays a series of folds, which raises it from the underlying cartilage
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• visceral ectopia is frequently observed; abnormal placement of adrenal glands is exhibited
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• absent
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• at 13 days, number of visible nipples is reduced from 4 pairs to 2 pairs
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• partially fills orbit of eyes in some newborns as result of hyperplasia, when normal eye tissue is reduced or absent
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• visceral ectopia is frequently observed; females often show ectopic placement of the ovaries
• visceral organs show no histological abnormalities
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• 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
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• forehead is abnormal at 10 days of gestation
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• 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
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• 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
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• septum is broad and short, and paraseptal cartilages are deformed
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• epithelium displays a series of folds, which raises it from the underlying cartilage
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• at 13 days gestation, embryos display enlarged umbilical hernia that includes part of liver
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• at 13 days, number of visible nipples is reduced from 4 pairs to 2 pairs
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• 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
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• at 13 days, forehead and nose exhibit irregular array of epidermal papillae (sensory hairs)
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• visceral ectopia is frequently observed; females often show ectopic placement of the ovaries
• visceral organs show no histological abnormalities
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• digits have lost their identity with some digits consisting of three phalanges that are usually undivided and longer than those in Gli3tm2Blnw homozygotes
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• phalanges in some digits are undivided and longer than those in Gli3tm2Blnw homozygotes
• rarely extra phalanges element branch from the metatarsals
• however, ossification occurs at most proximal and distal phalanges
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• at E16.5, some mice have 6 to 8 digits that lacked identity
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• at E16.5, in some mice
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• phalanges in some digits are undivided and longer than those in Gli3tm2Blnw homozygotes
• rarely extra phalanges element branch from the metatarsals
• however, ossification occurs at most proximal and distal phalanges
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• at E16.5, in some mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• loss of diagnostic morphology of isthmus
• anterior isthmus region with characteristics of the cerebellum
• thicker than normal Purkinje region and axons disorganized
• dorsal mesencephalon, isthmus, and r1 not distinct at E10.5 and E12.5
• isthmus flexure less prominent
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• tegmentum unaffected
• ventral nuclei containing dopaminergic neurons appear normal
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• expanded mesencephalic ventricle at E10.5 and E12.5
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• poorly formed
• loss of diagnostic morphology
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• loss of diagnostic morphology
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• overgrown tectum
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• thickness of ventricular zone increased
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• not clearly separated from the isthmus at E18.5
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• poorly foliated
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• thicker than normal
• axons disorganized in lateral regions
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• loss of diagnostic morphology of isthmus
• anterior isthmus region with characteristics of the cerebellum
• thicker than normal Purkinje region and axons disorganized
• dorsal mesencephalon, isthmus, and r1 not distinct at E10.5 and E12.5
• isthmus flexure less prominent
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• on 50% of animals, seven digits are observed on fore- and hindlimbs
• when double mutants are backcrossed to wild-type (C57BL/6 x SJL)F1 animals, 50% of mice display only 1 extra toe per hindlimb
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• in some animals 2 of the extra digits are fused
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• severe polydactyly (10 toes)
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• 1 of 5 mutants exhibits skeletal abnormalities
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• progenitors for motor neurons, V1 and V2 interneurons are present but intermixed indicating abnormal spatial patterning
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• increased proliferation of ventral spinal cord progenitors at E10.5
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• floor plate progenitors are missing
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• incorrect positioning and number of V0-V2 and motor neuron progenitors at E9.5
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• ventral spinal cord is expanded resulting in a wavy appearance
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• distribution of motor neurons varies at E12.5
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• reduction in the number of differentiated motor neurons but an increase in their progenitors
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• absence of V3 progenitors and interneurons, however V0-V2 cells are formed
• fewer V2, V1, and V0 interneurons are seen in the hindlimb
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• absence of V3 progenitors and interneurons, however V0-V2 cells are formed
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• floor plate progenitors are missing
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• progenitors for motor neurons, V1 and V2 interneurons are present but intermixed indicating abnormal spatial patterning
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• increased proliferation of ventral spinal cord progenitors at E10.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the motor neuron progenitor domain is greatly expanded dorsally however motor neuron appear to differentiate normally
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• the motor neuron progenitor domain is greatly expanded dorsally however motor neurons appear to differentiate normally
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• expansion of the ventral neural cell types is increased compared to Kif7 single mutants
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• expansion of the ventral neural cell types is increased compared to Kif7 single mutants
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• absence of floor plate cells throughout the anterior/posterior (A/P) axis of the spinal cord
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• decrease in number of V3 interneurons that occupy the ventral midline
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• absence of floor plate cells throughout the anterior/posterior (A/P) axis of the spinal cord
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| N |
• almost complete rescue of the pre-axial limb polydactyly observed in Gli3 mutants
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• most double homozygous mutants die at ~E10.5
• a small number of double homozygous mutants survive to E13.5-E14.5
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• no lung primordia are detected at E9.5 or later
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• all double homozygous mutant mice lack lungs
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• no tracheal primordia are detected at E9.5 or later
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• all double homozygous mutant mice lack a trachea
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• no esophageal primordia are detected at E9.5 or later
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• no foregut differentiation into esophagus, trachea and lung is noted at E10.5
• at E10.5, the double mutant foregut endoderm remains a single tube, except for the stomach region
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• all double homozygous mutant mice lack an esophagus
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• the foregut endoderm fails to develop into lung, trachea and esophagus
• however, hepatic and pancreatic buds are present
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E11.5, mutant embryos display esophageal atresia with tracheoesophageal fistula, in which the esophagus is missing and the trachea is directly connected to the stomach
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• at E16.5, the left and right lobes are fused, resulting in a single-lobed lung
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• at E16.5, mutant lungs fail to separate into right and left lobes and are thus composed of a single lobe, whereas wild-type and homozygous Gli2tm1Alj mutant lungs have five and two lobes, respectively
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• mutant lung buds do not form until E10.0, unlike in wild-type and homozygous Gli2tm1Alj mutant embryos where a pair of lung buds can be seen at E9.5
• at E11.5, an ectopic lung bud is found between the right and left lung buds
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• at E16.5, mutant lungs are more hypoplastic than those of wild-type or homozygous Gli2tm1Alj mutant embryos
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• at E16.5, the tracheal cartilaginous rings are more severely malformed than those in Gli2tm1Alj mutant embryos
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• at E16.5, tracheal stenosis is more severe than that in Gli2tm1Alj mutant lungs
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• at E11.5, mutant embryos display esophageal atresia with tracheoesophageal fistula
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• at E11.5, mutant embryos display esophageal atresia with tracheoesophageal fistula, in which the esophagus is missing and the trachea is directly connected to the stomach
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• at E16.5, the tracheal cartilaginous rings are more severely malformed than those in Gli2tm1Alj mutant embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• similar to Gli3xt homozygous mutant mice
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• embryonic dorsal brain defects are similar to Gli3xt homozygous mutant embryos
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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