Analysis Tools
mortality/aging
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• mice delivered by Cesarean survive less than an hour
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• these double homozygous mutants exhibit many of the defects characteristic of fetal vitamin A deficiency
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• fewer than expected mice are present at E18.5
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reproductive system
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• these defects, in the vas deferens and seminal gland, are associated with the absence of the caudal-most Wolffian duct
• at E18.5 agenesis of the seminal vesicles is also found in these male mice (2 out of 2)
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• at E18.5 the body of the uterus is absent due to the absence of the caudal paramesonephric ducts (3 out of 3)
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absent uterus
(
J:21034
)
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• the body of the uterus is absent, however the uterine horns were uni- or bilaterally present
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• at E18.5 the cranial vagina is absent due to the absence of the caudal paramesonephric ducts (3 out of 3)
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• at E 18.5 agenesis or dysplasia of the vas deferens is seen in these mice (2 out of 2)
• agenesis is associated with bilateral agenesis of the kidney
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skeleton
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• in all mice
(J:21009)
• the shape of the hyoid bone is abnormal, with the greater horns, body and lesser horns being unrecognizable (6 out of 6)
(J:21034)
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• underossified when present
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• never closes
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• absent medial portions
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• basioccipital exoccipital fusion in 1 of 6 mice
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• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod
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• replaced with aggregates of cartilaginous and bony nodules or rods
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• in mice with exencephaly
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• absent lamina cribiform, replaced with aggregates of cartilaginous and bony nodules or rods
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• further apart than in wild-type mice and fused with paramedian swellings most likely nasomedial processes
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• replaced with aggregates of cartilaginous and bony nodules or rods
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• absent medial portions
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• replaced with aggregates of cartilaginous and bony nodules or rods
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• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone
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• larger than in wild-type mice
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• reduced to laterocaudal rudiments, replaced with aggregates of cartilaginous and bony nodules or rods
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• unilateral ectopic distal carpal bone in 1 of 6 mice
• unilateral agenesis of D1 carpal bone in 3 (left) and 2 (right) mice
• bilateral agenesis in the central carpal bone in 5 of 6 mice and unilateral in the remaining mouse
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• delayed ossification of the metacarpals and/or phalanges bulbous with outline of the synovial joints between phalanges difficult to discern
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absent radius
(
J:21009
)
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• unilateral in 2 of 5 mice
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short fibula
(
J:21009
)
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• with increased diameter of ossification
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bowed tibia
(
J:21009
)
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• delayed ossification of the metacarpals and/or phalanges
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• the shape of the arytenoid cartilage is unrecognizable (6 out of 6)
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• the shape of the cricoid cartilage is unrecognizable (6 out of 6)
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• the cricoid cartilage is abnormally fused to the tracheal rings (6 out of 6)
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• the shape of the thyroid cartilage was unrecognizable (6 out of 6)
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• the bifurcation of the tracheal cartilage that gives rise to the bronchi occurs prematurely (6 out of 6)
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• the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (6 out of 6)
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• malformation or partial agenesis of scapula in 5 of 6 mice
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• in all mice
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rib fusion
(
J:21009
)
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• in 2 of 6 mice
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• fusion of cervical neural arches in all mice
• dyssymphysis of cervical neural arches in all mice
• ectopic bone in cervical region in 2 of 6 mice
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• in all mice
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• C7 to T1 of T2 in 4 of 6 mice
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• in all mice
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• ectopic cartilage is found at either the base of the heart semilunar cusps, in the diaphragm, or in the peritoneum (2 out of 5)
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nervous system
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• open rhombencephalic neural tube at E10.5 and E11.5
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• secondary to increased intracranial pressure caused by shortened braincase and compression by intracranial ectopic cartilaginous and bony nodules in non-exencephalic mice at E18.5
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• the pituitary gland remains in contact with the pharynx
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• failure of the rostral interhemispheric commissures (corpus callosum, hippocampal commissure and anterior commissure)
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• underdeveloped telencephalic hemispheres
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exencephaly
(
J:21009
)
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• at E18.5
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• absence of the motor nucleus
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• in all mice
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limbs/digits/tail
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• bilateral malformation of the scapholunatum in all mice
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• unilateral ectopic distal carpal bone in 1 of 6 mice
• unilateral agenesis of D1 carpal bone in 3 (left) and 2 (right) mice
• bilateral agenesis in the central carpal bone in 5 of 6 mice and unilateral in the remaining mouse
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• delayed ossification of the metacarpals and/or phalanges bulbous with outline of the synovial joints between phalanges difficult to discern
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• bilateral prepollex agenic or rudimentary in 3 of 6 mice, unilateral in remaining mice
• hypoplastic in 1 of 6 mice
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oligodactyly
(
J:21009
)
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• in some mice
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polydactyly
(
J:21009
)
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• in 1 of 6 mice
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• twisted hindfoot such that the footplate faces the lateral abdominal wall without syndactyly or other digit malformations
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absent radius
(
J:21009
)
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• unilateral in 2 of 5 mice
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short fibula
(
J:21009
)
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• with increased diameter of ossification
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bowed tibia
(
J:21009
)
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• delayed ossification of the metacarpals and/or phalanges
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hearing/vestibular/ear
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• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone
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• larger than in wild-type mice
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• bilateral agenesis of the auricle
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• at E10.5
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• at E18.5
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• cartilaginous otic capsule is small and incomplete resulting in the cystic protrusion of the epithelial inner ear within the braincase
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digestive/alimentary system
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• further apart than in wild-type mice and fused with paramedian swellings most likely nasomedial processes
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• in all mice
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growth/size/body
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• further apart than in wild-type mice and fused with paramedian swellings most likely nasomedial processes
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• absent medial portions
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• reduced to laterocaudal rudiments, replaced with aggregates of cartilaginous and bony nodules or rods
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• absent prolabium (median third of the upper lip)
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• replaced with aggregates of cartilaginous and bony nodules or rods
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short snout
(
J:21009
)
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• sagittal median cleft
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• bilateral agenesis of the auricle
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• at E18.5
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vision/eye
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• in all mice
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• absent in 4 of 12 mice
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• small in all mice
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• in 8 of 12 mice
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absent cornea
(
J:21009
)
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• in 4 of 12 mice
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• in 4 of 12 mice
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• in all mice
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• in 4 of 12 mice
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• in all mice
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• in all mice
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• in all mice
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• small or absent eyes in some mice at E18.5
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• unilateral in 2 of 3 mice, bilateral in 1 of 3 mice
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anophthalmia
(
J:21009
)
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• small or absent eyes in some mice at E18.5
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muscle
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• the ventricular myocardium is abnormally thin (2 out of 5)
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cardiovascular system
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• abnormalities of the heart and abnormalities of the great vessels related to aortic arch patterning defects similar to those seen in offspring of vitamin A deficient rats were seen in these mice at E18.5
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• the right dorsal aortic root which is normally lost persists (5 out of 5)
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• the distal portions of the right and left 6th aortic arches are unidentifiable (3 out of 5)
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• the normal fetal connection between the aorta and the main pulmonary artery (ductus arteriosus) is also absent in mice with persistent truncus arteriosus and is thought to be secondary to this condition
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• the ventricular myocardium is abnormally thin (2 out of 5)
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• this defect is detected at E18.5 in 100% of double mutants
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• in mice with persistent truncus arteriosus defects are also found in the membranous portion of the ventricular septum but not in the muscular portion of the septum (5 out of 5)
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• associated with the defect in aortic morphology the aortic valve has 4 cusps
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endocrine/exocrine glands
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• in all mice
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• the pituitary gland remains in contact with the pharynx
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• at E18.5 the parathyroid glands were rostrally displaced and not associated with the thyroid gland
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• at E 18.5 persistent cervical thymus occurs in which the thymus is found in the neck with no trace of thymic tissue in its normal location (5 out of 5)
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• at E18.5 the thyroid glands were located either rostral to their normal location in contact with the hyoid bone or caudal to their normal location within the anterior mediastinum (3 out of 5)
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• these defects, in the vas deferens and seminal gland, are associated with the absence of the caudal-most Wolffian duct
• at E18.5 agenesis of the seminal vesicles is also found in these male mice (2 out of 2)
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• in all mice
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immune system
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• at E 18.5 persistent cervical thymus occurs in which the thymus is found in the neck with no trace of thymic tissue in its normal location (5 out of 5)
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renal/urinary system
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• at E12.5 the nephric mesenchyme is present but fails to differentiate (N = 1)
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• the renal pelvis was always absent in these mice (5 out of 5)
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absent kidney
(
J:21034
)
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• at E18.5 renal agenesis in which no kidney tissue could be found and/or renal aplasia in which a small retroperitoneal mass with randomly dispersed tubules and glomeruli is found caudal to the normal location is seen; these conditions can exist in the same mouse (3 out of 5 for both)
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absent ureter
(
J:21034
)
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• associated with kidney agenesis the ureter on the same side as the agenic kidney is also absent (5 out of 5)
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• when present, the ureteric bud failed to reach the metanephric blastema (N = 2)
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• at E11.5 the ureteric bud was absent on one or both sides
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respiratory system
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• at E18.5 multiple defects in the cartilages that make up the skeleton of, the trachea, the extrapulmonary bronchi, and the larynx were found, including a decrease in alcian blue staining suggesting deficient cartilage formation
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• absent medial portions
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• reduced to laterocaudal rudiments, replaced with aggregates of cartilaginous and bony nodules or rods
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• replaced with aggregates of cartilaginous and bony nodules or rods
|
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• the shape of the arytenoid cartilage is unrecognizable (6 out of 6)
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• the shape of the cricoid cartilage is unrecognizable (6 out of 6)
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• the shape of the thyroid cartilage was unrecognizable (6 out of 6)
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• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused
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• the bifurcation of the tracheal cartilage that gives rise to the bronchi occurs prematurely (6 out of 6)
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• the cricoid cartilage is abnormally fused to the tracheal rings (6 out of 6)
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• the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (6 out of 6)
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short trachea
(
J:21034
)
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• the trachea is shorter than normal
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hematopoietic system
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• at E 18.5 persistent cervical thymus occurs in which the thymus is found in the neck with no trace of thymic tissue in its normal location (5 out of 5)
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embryo
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• the distal portions of the right and left 6th aortic arches are unidentifiable (3 out of 5)
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• the caudal paramesonephric ducts are absent in females resulting in the loss of the body of the uterus and the cranial vagina, at E18.5 which are derived from these ducts
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• the caudal most Wolffian duct is absent in males at E11.5 (2 out of 2)
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• open rhombencephalic neural tube at E10.5 and E11.5
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craniofacial
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• the distal portions of the right and left 6th aortic arches are unidentifiable (3 out of 5)
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• underossified when present
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• never closes
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• absent medial portions
|
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• basioccipital exoccipital fusion in 1 of 6 mice
|
|
• C7 to T1 of T2 in 4 of 6 mice
|
|
• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod
|
|
• replaced with aggregates of cartilaginous and bony nodules or rods
|
|
• in mice with exencephaly
|
|
• absent lamina cribiform, replaced with aggregates of cartilaginous and bony nodules or rods
|
|
• further apart than in wild-type mice and fused with paramedian swellings most likely nasomedial processes
|
|
• replaced with aggregates of cartilaginous and bony nodules or rods
|
|
• absent medial portions
|
|
• replaced with aggregates of cartilaginous and bony nodules or rods
|
|
• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone
|
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• larger than in wild-type mice
|
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• reduced to laterocaudal rudiments, replaced with aggregates of cartilaginous and bony nodules or rods
|
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• absent prolabium (median third of the upper lip)
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• replaced with aggregates of cartilaginous and bony nodules or rods
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short snout
(
J:21009
)
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• sagittal median cleft
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• bilateral agenesis of the auricle
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