mortality/aging
|
• mice delivered by Cesarean survive less than 12 hours
(J:21009)
• these double homozygous mutants exhibit many of the defects characteristic of fetal vitamin A deficiency
(J:21034)
|
reproductive system
|
|
• the body of the uterus and cranial vagina that are derived from the paramesonephric ducts are absent at E18.5 (2 out of 2).
|
absent uterus
(
J:21034
)
|
|
• the body of the uterus is absent at E18.5; however, the uterine horns are uni- or bilaterally present
|
|
|
• the cranial vagina is absent at E18.5
|
skeleton
|
• the thyroid cartilage was partially fused to the hyoid bone (4 out of 10)
|
|
• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod
|
|
• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone
|
|
• larger than in wild-type mice
|
|
• the thyroid cartilage was partially fused to the hyoid bone
|
|
• the tracheal cartilage was mildly malformed (10 out of 10)
|
|
• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)
|
|
• ectopic cartilage is found at either the base of the heart semilunar cusps, in the diaphragm, or in the peritoneum (2 out of 3).
|
cardiovascular system
|
• 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
|
|
• the right dorsal aortic root which is normally lost persists (2 out of 3)
|
|
• the left 4th aortic arch is which normally persists is lost (2 out of 3)
|
|
• the distal portion left 6th aortic arch is unidentifiable (2 out of 3)
|
|
• defects are found in the membranous portion of the ventricular septum but not in the muscular portion of the septum (2 out of 3)
|
vision/eye
|
• fibrous retrolenticular membrane in 4 of 6 mice
|
embryo
|
• the left 4th aortic arch is which normally persists is lost (2 out of 3)
|
|
• the distal portion left 6th aortic arch is unidentifiable (2 out of 3)
|
|
• the caudal paramesonephric ducts are absent in females at E13.5 (2 out of 2).
• this likely results in the loss of the body of the uterus and the cranial vagina which are derived from the paramesonephric ducts
|
endocrine/exocrine glands
|
• the parathyroid glands were rostrally displaced and not associated with the thyroid gland
|
renal/urinary system
|
• abnormally large glomeruli are found in the cortical region of hypoplastic kidneys
|
|
• the nephrogenic zone of the cortex is absent in hypoplastic kidneys
|
|
• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred
|
|
• when examined at E18.5 the kidneys are smaller than normal due to bilateral hypoplasia however division of the kidney into cortical and medullary regions is still present.
• these defects are not as severe as those found in Rar double homozygous mutants in which expression of both the alpha1 and alpha2 subunits is disrupted. (2 out of 3)
|
|
• abnormally large convoluted tubules are also found in the cortical region of these hypoplastic kidneys
|
|
• hypoplastic kidneys are often ectopic being located in the lower lumbar or sacral regions rather than in the normal upper lumbar site
|
|
• all mice exhibiting hydronephrosis and hydroureter had either ectopically terminating ureters that opened into the urethra or agenesis of the caudal ureter such that the ureter failed to join any part of the lower genitor-urinary tract. (2 out of 3)
|
|
• mice exhibiting hydronephrosis and hydroureter may show ectopically terminating ureters that open into the urethra
|
hydroureter
(
J:21034
)
|
• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred
|
respiratory system
|
• multiple defects in the cartilages that make up the skeleton of the trachea and the larynx are found at E18.5.
• these defects are milder than those found in Rar double homozygous mutants (alpha beta2) in which expression of both the alpha1 and alpha2 subunits is disrupted.
|
|
• the thyroid cartilage was partially fused to the hyoid bone
|
|
• the tracheal cartilage was mildly malformed (10 out of 10)
|
|
• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)
|
hearing/vestibular/ear
|
• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone
|
|
• larger than in wild-type mice
|
craniofacial
| N |
• mice exhibit normal craniofacial skeleton at E18.5
|
|
• the left 4th aortic arch is which normally persists is lost (2 out of 3)
|
|
• the distal portion left 6th aortic arch is unidentifiable (2 out of 3)
|
|
• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod
|
|
• continuous with a rostrally oriented cartilaginous or osseous rod, which is frequently fused with the alisphenoid bone
|
|
• larger than in wild-type mice
|


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