Analysis Tools
normal phenotype
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• appear normal with no defects in fertility, life span, internal organs, skeleton, or cartilage
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Allele Symbol Allele Name Allele ID |
Rarbtm1Ipc targeted mutation 1, Pierre Chambon MGI:1857623 |
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| Summary |
7 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• appear normal with no defects in fertility, life span, internal organs, skeleton, or cartilage
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 68% of mutants exhibit persistent hyperplastic primary vitreous
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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)
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• the body of the uterus and cranial vagina that are derived from the paramesonephric ducts are absent at E18.5 (2 out of 2).
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• the body of the uterus is absent at E18.5; however, the uterine horns are uni- or bilaterally present
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• the cranial vagina is absent at E18.5
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• the thyroid cartilage was partially fused to the hyoid bone (4 out of 10)
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• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod
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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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• the thyroid cartilage was partially fused to the hyoid bone
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• the tracheal cartilage was mildly malformed (10 out of 10)
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• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)
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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 3).
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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 (2 out of 3)
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• the left 4th aortic arch is which normally persists is lost (2 out of 3)
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• the distal portion left 6th aortic arch is unidentifiable (2 out of 3)
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• defects are found in the membranous portion of the ventricular septum but not in the muscular portion of the septum (2 out of 3)
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• fibrous retrolenticular membrane in 4 of 6 mice
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• the left 4th aortic arch is which normally persists is lost (2 out of 3)
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• the distal portion left 6th aortic arch is unidentifiable (2 out of 3)
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• 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
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• the parathyroid glands were rostrally displaced and not associated with the thyroid gland
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• abnormally large glomeruli are found in the cortical region of hypoplastic kidneys
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• the nephrogenic zone of the cortex is absent in hypoplastic kidneys
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• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred
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• 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)
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• abnormally large convoluted tubules are also found in the cortical region of these hypoplastic kidneys
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• hypoplastic kidneys are often ectopic being located in the lower lumbar or sacral regions rather than in the normal upper lumbar site
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• 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)
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• mice exhibiting hydronephrosis and hydroureter may show ectopically terminating ureters that open into the urethra
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• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred
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• 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.
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• the thyroid cartilage was partially fused to the hyoid bone
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• the tracheal cartilage was mildly malformed (10 out of 10)
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• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)
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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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| N |
• mice exhibit normal craniofacial skeleton at E18.5
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• the left 4th aortic arch is which normally persists is lost (2 out of 3)
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• the distal portion left 6th aortic arch is unidentifiable (2 out of 3)
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• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod
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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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice delivered by Cesarean survive less than an hour
(J:21009)
• these double homozygous mutants exhibit many of the defects characteristic of fetal vitamin A deficiency
(J:21034)
|
|
|
• at E18.5 the uterine tubes, uterus and the cranial vagina that are all derived from the paramesonephric ducts are absent due to the absence of these ducts (6 out of 6)
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• absent uterine tubes at E18.5
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• at E18.5
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• at E18.5
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• in all mice
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• basioccipital exoccipital fusion in 7 of 10 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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• 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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• the shape of the cricoid cartilage is unrecognizable (10 out of 10)
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• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)
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• the rostral horn of the thyroid cartilage is fused to the greater horn of the hyoid bone (10 out of 10)
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• the bifurcation of the tracheal cartilage is premature in these mice (10 out of 10)
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• fusion of cervical neural arches in 4 of 10 mice
• dyssymphysis of cervical neural arches in 4 of 10 mice
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• in 8 of 10 mice
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• C2 to C1 in 2 of 10 mice
• C6 to C5 in 8 of 10 mice
• C7 to C6 in 8 of 10 mice
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• in 7 of 10 mice
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• at E18.5 the right dorsal aortic root which is normally lost persists (6 out of 7)
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• the distal portions of the right and left 6th aortic arches are unidentifiable (7 out of 7)
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• at E18.5, the left pulmonary artery is absent; this defect is associated with the absence of the left lung (6 out of 7)
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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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• 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 (7 out of 7)
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• associated with the defect in aortic morphology the aortic valve has 4 cusps (7 out of 7)
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• fibrous retrolenticular membrane in 14 of 14 mice
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• agenesis of the anal canal with the rectum being separated from the skin by a thick layer of mesenchyme was seen at E18.5 (5 out of 7)
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• at E11.5 and E18.5 the epithelium of the esophagotracheal tube and the caudal esophagus is of the columnar ciliated type (7 out of 7)
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• at E11.5 the tube that will become the esophagus and trachea fails to divide resulting in the absence of the esophagotracheal septum (7 out of 7)
• the epithelium of the esophagotracheal tube is columnar ciliated cells like those normally found in the trachea (7 out of 7)
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• at E18.5 the epithelium of the cardiac and preventricular portions of the stomach is of the columnar ciliated type (7 out of 7)
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• the distal portions of the right and left 6th aortic arches are unidentifiable (7 out of 7)
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• the paramesonephric ducts are absent despite the presence of normal Wolffian ducts resulting in the loss of the uterine tubes, uterus and the cranial vagina which are all derived from the paramesonephric ducts
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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 E18.5 accessory (cervical) thymus bodies are found in the larynx of these mutants (5 out of 7)
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• at E18.5 accessory (cervical) thymus bodies are found in the larynx of these mutants (5 out of 7)
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• abnormally large glomeruli are found in the cortical region of hypoplastic kidneys
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• at E14, the subcapsular region appears histologically abnormal, as a dense ring of mesenchymal cells lacking ureteric bud ends
• at E12, the distribution of stromal cells in the subcapsular region is abnormal forming a thick peripheral layer devoid of ureteric bud ends
• however, metanephric mesenchymal cell survival and differentiation appear normal
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• nephrogenic mesenchymal cells and ureteric bud ends are localized inside the peripheral layer of putative stromal cells, rather than in their normal position below the renal capsule
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• the nephrogenic zone of the cortex is absent
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• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred (7 out of 10)
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• at E14, mutant embryonic kidneys are much smaller than wild-type
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• 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 (10 out of 10)
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• nephron formation is reduced
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• abnormally convoluted tubules are found in the cortical region of hypoplastic kidneys
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• hypoplastic kidneys are often ectopic being located in the lower lumbar or sacral regions rather than in the normal upper lumbar site
|
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• all mice exhibiting hydronephrosis and hydroureter had either ectopically terminating ureters that opened into the urethra (5 out of 10) or agenesis of the caudal ureter such that the ureter failed to join any part of the lower genitor-urinary tract (6 out of 10)
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• 5 of 10 mice exhibiting hydronephrosis and hydroureter showed ectopically terminating ureters that opened into the urethra
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• at E18.5 despite the decrease in kidney size hydronephrosis and hydroureter are seen indicating some renal excretory function occurred (7 out of 10)
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• at E14, the number of ureteric bud tips is reduced ~4-fold relative to that in wild-type embryos; only 4-5 generations of branches are observed versus 8-9 in wild-type embryos
• impaired ureteric bud branching is likely due to loss of Ret (c-ret) expression in the ureteric bud tips, evident by E12
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• at E14, ureteric bud ends are abnormally located in a recessed position away from the subcapsular region
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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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• multiple defects in tissues derived from the primitive thoracic foregut and associated later mesoderm including the lung parenchyma, tracheobronchial tree, larynx, pharynx, and esophagus were found at E18.5
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• at E11.5 the tube that will become the esophagus and trachea fails to divide resulting in the absence of the esophagotracheal septum (7 out of 7)
• the epithelium of the esophagotracheal tube is columnar ciliated cells like those normally found in the trachea (7 out of 7)
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• the shape of the cricoid cartilage is unrecognizable (10 out of 10)
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• the rostral horn of the thyroid cartilage is fused to the greater horn of the hyoid bone (10 out of 10)
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• the left lung is absent (6 out of 7) or hypoplastic (1 out of 7)
• examination at E11.5 revealed that the left lung bud is also absent
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• the left stem bronchus is nearly absent at E11.5
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• at E11.5 and E12.5 branching of the right stem bronchus is delayed approximately 24 hours and appears to be the cause the hypoplasia of the right lung
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• the right lung is hypoplastic (7 out of 7)
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• the right lung fails to cross the midline because of hypoplasia in the accessory lobe of the right lung
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• the bifurcation of the tracheal cartilage is premature in these mice (10 out of 10)
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• the cricoid cartilage is abnormally fused to the tracheal rings (10 out of 10)
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• at E18.5 accessory (cervical) thymus bodies are found in the larynx of these mutants (5 out of 7)
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| N |
• mice exhibit normal craniofacial skeleton at E18.5
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• the distal portions of the right and left 6th aortic arches are unidentifiable (7 out of 7)
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• basioccipital exoccipital fusion in 7 of 10 mice
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• C2 to C1 in 2 of 10 mice
• C6 to C5 in 8 of 10 mice
• C7 to C6 in 8 of 10 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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• 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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod
|
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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 absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5
• however, the stroma is present
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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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• severe in one mouse, milder in two 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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• 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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• severe in one mouse, milder in two mice
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• in all mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice delivered by Cesarean survive less than 12 hours
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| N |
• mice exhibit normal craniofacial skeleton at E18.5
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• in 2 of 9 mice
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• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused
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• at E18.5 the tracheal cartilage rings are severely malformed (9 out of 9)
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• the cricoid cartilage is abnormally fused to the tracheal rings (9 out of 9)
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• with the sublingual caruncle always present
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• with the sublingual caruncle always present
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• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5
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• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5
• however, the stroma is present
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• in 7 of 9 mice
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• at E18.5 the tracheal cartilage rings are severely malformed (9 out of 9)
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• the cricoid cartilage is abnormally fused to the tracheal rings (9 out of 9)
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• in 5 of 9 mice
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• in 2 of 9 mice
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• in 5 of 9 mice
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• C2 to C1 in 2 of 9 mice
• C6 to C5 in 1 of 9 mice
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• in all mice, chondrified
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• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5
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• in all mice, chondrified
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• small in all 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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• in 1 of 6 mice
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• in some mice
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• at E18.5 the right dorsal aortic root which is normally lost persists (2 out of 3)
|
|
• 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
|
|
• this defect was detected in 2 of 4 mutants at E18.5
|
|
• 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 at E18.5 (3 out of 4)
|
|
• abnormally large glomeruli are found in the cortical region of hypoplastic kidneys
|
|
• the nephrogenic zone of the cortex is absent in hypoplastic kidneys
|
|
• kidneys are smaller than normal due to bilateral hypoplasia; however, division of the kidney into cortical and medullary regions is still present at E18.5 (3 out of 4)
• kidney hypoplasia is less severe than in double homozygous mice
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|
• abnormally convoluted tubules are found in the cortical region of hypoplastic kidneys
|
|
• hypoplastic kidneys are often ectopic being located in the lower lumbar or sacral regions rather than in the normal upper lumbar site
|
|
• multiple defects in tissues derived from the primitive thoracic foregut and associated later mesoderm including the lung parenchyma, tracheobronchial tree, larynx, pharynx, and esophagus were found at E18.5.
• the morphology of the cartilages that make up the larynx and trachea were not examined in these mice
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• the right and left lungs are hypoplastic (2 out of 4)
• unlike in double homozygous mice the left lung is present but hypoplastic
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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 04/16/2024 MGI 6.23 |
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