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Allele Symbol Allele Name Allele ID |
Raratm2Ipc targeted mutation 2, Pierre Chambon MGI:1857867 |
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| Summary |
5 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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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 |
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• mice delivered by Cesarean survive less than 12 hours
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• in all mice
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• a third cartilaginous pillar is fused ventrally to the basisphenoid bone to form a cartilaginous medial wall to the cavum epiptericum unlike in wild-type mice
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• at E18.5 the cricoid cartilage is abnormally fused to the tracheal rings (16 out of 16)
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• at E18.5 the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (16 out of 16)
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• in 6 of 16 mice
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• in 3 of 16 mice
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• fusion of cervical neural arches in 5 of 16 mice
• dyssymphysis of cervical neural arches in 10 of 16 mice
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• in 10 of 16 mice
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• in 3 of 16 mice
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• in 4 of 16 mice
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• C2 to C1 in 5 of 16 mice
• C6 to C5 in 4 of 16 mice
• C7 to C6 in 4 of 16 mice
• C7 to T1 or T2 in 6 of 16 mice
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• frequently bilateral cystic epithelial formations within the parenchyma
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• shortened, opened at the caudal end of the second lower molar
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• shortened, opened at the caudal end of the lower incisor
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• a third cartilaginous pillar is fused ventrally to the basisphenoid bone to form a cartilaginous medial wall to the cavum epiptericum unlike in wild-type mice
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• in 3 of 16 mice
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• frequently bilateral cystic epithelial formations within the parenchyma
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• shortened, opened at the caudal end of the second lower molar
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• shortened, opened at the caudal end of the lower incisor
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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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• 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
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• at E18.5 the cricoid cartilage is abnormally fused to the tracheal rings (16 out of 16)
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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 absent and are replaced by ventral cartilage and cartilaginous nodules (16 out of 16)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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 that is normally lost persists (2 out of 5)
|
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• the right 4th aortic arch that normally persists is lost (2 out of 5)
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• dextroposed ascending aorta - the aorta originates from the right ventricle (2 out of 5)
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• associated with dextroposition of the aorta, defects are also found in the membranous portion of the ventricular septum but not in the muscular portion of the septum (3 out of 5)
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• associated with the defect in aortic morphology the aortic valve has 4 cusps
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• the parathyroid glands were rostrally displaced and not associated with the thyroid gland
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• the kidneys are smaller than normal due to bilateral hypoplasia however division of the kidney into cortical and medullary regions is still present (2 out of 5)
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• multiple defects in the cartilages that make up the skeleton of, the trachea, the extrapulmonary bronchi, and the larynx were found at E18.5
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• the arytenoid cartilage is smaller than normal (11 out of 11)
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• the shape of the cricoid cartilage is abnormal (11 out of 11)
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• the cricoid cartilage is abnormally fused to the tracheal rings (11 out of 11)
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• the thyroid cartilage is smaller than normal (11 out of 11)
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• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused (11 out of 11)
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• the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (11 out of 11)
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• the arytenoid cartilage is smaller than normal (11 out of 11)
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• the shape of the cricoid cartilage is abnormal (11 out of 11)
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• the cricoid cartilage is abnormally fused to the tracheal rings (11 out of 11)
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• the thyroid cartilage is smaller than normal (11 out of 11)
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• the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (11 out of 11)
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• the right 4th aortic arch that normally persists is lost (2 out of 5)
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• the right 4th aortic arch that normally persists is lost (2 out of 5)
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in all mice
|
|
• a third cartilaginous pillar is fused ventrally to the basisphenoid bone to form a cartilaginous medial wall to the cavum epiptericum unlike in wild-type mice
• shortened braincase and compression by intracranial ectopic cartilaginous and bony nodules in non-exencephalic mice at E18.5
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• never closes
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• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod
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• dysplasia in some mice
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• in some mice
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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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• duplication of cartilaginous nasal septum
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• in 3 of 11 mice
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• in 2 of 11 mice
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• fusion of cervical neural arches in all mice
• dyssymphysis of cervical neural arches in 10 of 11 mice
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• in 9 of 11 mice
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• in 2 of 11 mice
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• in 5 of 11 mice
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• C2 to C1 in 7 of 11 mice
• C6 to C5 in 8 of 11 mice
• C7 to C6 in 8 of 11 mice
• C7 to T1 of T2 in 3 of 11 mice
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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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• in two exencephalic mice at E18.5
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• secondary to increased intracranial pressure caused by shortened braincase and compression by intracranial ectopic cartilaginous and bony nodules in 2 of 5 mice at E18.5
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• collapsed
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• failure of the rostral interhemispheric commissures (corpus callosum, hippocampal commissure and anterior commissure) in 2 of 5 mice at E18.5
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• small in two exencephalic mice at E18.5
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• in two exencephalic mice at E18.5
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• in two exencephalic mice at E18.5
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• ectopic cartilaginous and bony nodules at E18.5
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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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• bilateral (1 of 5 mice) or unilateral (3 of 5 mice) cystic epithelial formations within the parenchyma
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• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice
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• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice
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• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice
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• bilateral cystic dysplasia in 2 of 5 mice
• shortened in all mice
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• in all mice
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• in two exencephalic mice at E18.5
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• a third cartilaginous pillar is fused ventrally to the basisphenoid bone to form a cartilaginous medial wall to the cavum epiptericum unlike in wild-type mice
• shortened braincase and compression by intracranial ectopic cartilaginous and bony nodules in non-exencephalic mice at E18.5
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• never closes
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• in 2 of 11 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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• dysplasia in some mice
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• in some mice
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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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• cleft of the median upper lip in some mice
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• duplication of cartilaginous nasal septum
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• bilateral (1 of 5 mice) or unilateral (3 of 5 mice) cystic epithelial formations within the parenchyma
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• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice
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• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice
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• bilateral in 1 of 5 mice, unilateral in 3 of 5 mice
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• bilateral cystic dysplasia in 2 of 5 mice
• shortened in all mice
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• dysplasia in some mice
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• in some mice
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• cleft of the median upper lip in some mice
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• duplication of cartilaginous nasal septum
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• duplication of cartilaginous nasal septum
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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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