Analysis Tools|
Allele Symbol Allele Name Allele ID |
Rargtm1Ipc targeted mutation 1, Pierre Chambon MGI:1931079 |
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| Summary |
19 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 11% of mice exhibit possible transformation of the C2 vertebrae with slightly narrower C1 neural arches and/or a short cartilaginous ectopic anterior arch of the atlas on C2
|
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• 7% of mice have posterior spinous processes on V10 and sometimes V9
|
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|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• less than 40% survive to 3 months of age
|
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• less than 40% survive to 3 months of age
|
 |
• atrophy of cranial prostate, with the characteristic mucosal folds and septa of the prostate often missing
• some mutants exhibit hypertrophy of the cranial prostate, probably due to an infection of the gland
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• prostate glands exhibit squamous metaplasia and/or keratinization of the glandular epithelia
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• atrophy of seminal vesicles, with the characteristic mucosal folds and septa of the seminal often missing
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• seminal vesicles exhibit squamous metaplasia and/or keratinization of the glandular epithelia
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• males surviving to sexual maturity (older than 8 weeks) never impregnate females
• due to squamous metaplasia of the seminal vesicles and prostate
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• in 25 of 29 mice
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• fusion of the cartilaginous rings on the ventral side of the trachea and disruption of the rings
(J:12691)
• fusion between tracheal rings
(J:42773)
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• 25 of 29 mutants exhibit various malformations of the axial skeleton at E18.5
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• presence of a cartilaginous process extending caudally from the ventral side of their cricoid cartilage; 100% penetrance
|
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• fusion of the first and second ribs
(J:12691)
• in 4 of 29 mice
(J:21009)
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• bifidus of the neural arch of the 1st or 2nd cervical vertebra
(J:12691)
• fusion of cervical neural arches in 5 of 29 mice
(J:21009)
|
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• in 2 of 29 mice
|
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• fusion of the basioccipital bone to the anterior arch of the atlas
(J:12691)
• in 8 of 29 mice
(J:21009)
|
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• in 3 of 29 mice
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• ossified fusions between the neural arches of either C1 and C2 or C2 and C3
|
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• anterior transformation of the 8th thoracic vertebra to a 7th thoracic identity, resulting in 8 instead of 7 vertebrosternal ribs
|
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• anterior transformation of the axis (second cervical vertebra, C2) to an atlas (first cervical vertebra, C1) identity
(J:12691)
• unilateral anterior transformation of C7 to a 6th vertebral identity (C6) with a concomitant unilateral anterior transformation of C6 to a 5th cervical identity (C5
(J:12691)
• C2 to C1 in 5 of 29 mice
(J:21009)
• C6 to C5 in 4 of 29 mice
(J:21009)
• C7 to C6 in 4 of 29 mice
(J:21009)
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• persistence of the first and third hypochordal bar at E18.5
|
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• 40 to 80% the weight of littermates at P4-P5
|
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• seen at P4-P5
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• at birth, no apparent defect is observed but in adult homozygotes, transepidermal water loss is increased by ~20%
|
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• fetuses from dams treated with retinoic acid are resistant to the formation of spinal bifida and other skeletal malformations caused by retinoic acid in controls
|
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• presence of a cartilaginous process extending caudally from the ventral side of their cricoid cartilage; 100% penetrance
|
|
• fusion of the cartilaginous rings on the ventral side of the trachea and disruption of the rings
(J:12691)
• fusion between tracheal rings
(J:42773)
|
|
• fusion of the basioccipital bone to the anterior arch of the atlas
(J:12691)
• in 8 of 29 mice
(J:21009)
|
|
|
• atrophy of cranial prostate, with the characteristic mucosal folds and septa of the prostate often missing
• some mutants exhibit hypertrophy of the cranial prostate, probably due to an infection of the gland
|
|
|
• prostate glands exhibit squamous metaplasia and/or keratinization of the glandular epithelia
|
|
|
• atrophy of seminal vesicles, with the characteristic mucosal folds and septa of the seminal often missing
|
|
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• seminal vesicles exhibit squamous metaplasia and/or keratinization of the glandular epithelia
|
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• bilateral absence of the Harderian gland epithelium in some mutants
|
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• mutants often have closed and encrusted eyelids on one or both sides, first apparent around 2 weeks after birth
|
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• at birth, no apparent defect is observed but in adult homozygotes, transepidermal water loss is increased by ~20%
|
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• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis
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• epidermis ultrastructure of null mice have altered lamellar granules which normally contain corneodesmosin and extrude lipids in wild-type mice
• disorganized lamellae form aggregates at the apical pole of granular keratinocytes
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• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae
• disorganized lamellae form aggregates at the apical pole of granular keratinocytes
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• newborns have skin with glossy appearance
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 100% of mutants show skeletal malformations
|
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• 2 of 12 (17%) mutants exhibit a posterior tubercle on the basioccipital bone
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• 11 of 15 mutants exhibit agenesis of the metoptic pillar
|
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• 1 of 12 (8%) show fusion of the basioccipital bone with C1-AA
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• 11 of 12 (92%) mutants show tracheal cartilage abnormalities
|
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• 5 of 12 (42%) mutants show anterior transformation of T8 to T7
|
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• 3 of 12 (25%) mutants show fusion of C1-AA with C2 dens
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• 1 of 12 (8%) mutants show a bifid C1
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• 5 of 12 (42%) mutants show a bifid C2
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• 1 of 12 (8%) mutants show anterior transformation of C2 to C1
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• 1 of 12 (8%) mutants show fusions of neural arches of C2 and C3
|
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• 11 of 15 mutants exhibit agenesis of the metoptic pillar
|
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• mutants display a mild reduction of the palpebral aperture at E14.5
|
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• 2 of 12 (17%) mutants exhibit a posterior tubercle on the basioccipital bone
|
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• 11 of 15 mutants exhibit agenesis of the metoptic pillar
|
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• 1 of 12 (8%) show fusion of the basioccipital bone with C1-AA
|
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• 11 of 12 (92%) mutants show tracheal cartilage abnormalities
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 8% of mice exhibit possible transformation of the C2 vertebrae with slightly narrower C1 neural arches and/or a short cartilaginous ectopic anterior arch of the atlas on C2
|
|
• 3% of mice have posterior spinous processes on V10 and sometimes V9
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• display a mild reduction of the palpebral aperture at E14.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 90% of mice exhibit possible transformation of the C2 vertebrae with slightly narrower C1 neural arches and/or a short cartilaginous ectopic anterior arch of the atlas on C2
|
|
• 60% of mice have thick neural arches in the vertebrae
|
|
• 30% of mice have posterior spinous processes on V10 and sometimes V9
|
|
• 40% of mice have neural arch fusions of V1 to V4
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 33% of mice exhibit possible transformation of the C2 vertebrae with slightly narrower C1 neural arches and/or a short cartilaginous ectopic anterior arch of the atlas on C2
|
|
• 11% of mice have thick neural arches in the vertebrae
|
|
• 11% of mice have neural arch fusions of V1 to V4
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 38% of mice exhibit possible transformation of the C2 vertebrae with slightly narrower C1 neural arches and/or a short cartilaginous ectopic anterior arch of the atlas on C2
|
|
• 25% of mice have thick neural arches in the vertebrae
|
|
• 19% of mice have posterior spinous processes on V10 and sometimes V9
|
|
• 31% of mice have neural arch fusions of V1 to V4
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 9% of mice have anterior tubercles that have shifted posteriorly to the seventh cervical vertebrae
|
|
• 45% of mice exhibit possible transformation of the C2 vertebrae with slightly narrower C1 neural arches and/or a short cartilaginous ectopic anterior arch of the atlas on C2
|
|
• 36% of mice have thick neural arches in the vertebrae
|
|
• 27% of mice have posterior spinous processes on V10 and sometimes V9
|
|
• 73% of mice have neural arch fusions of V1 to V4
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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
|
|
• in 2 of 11 mice
|
|
• frequently fused to the incus, which is continuous with a rostrally oriented cartilaginous or osseous rod
|
|
• dysplasia in some mice
|
|
• in some mice
|
|
• 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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 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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• 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)
|
 |
• 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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• 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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• the shape of the hyoid bone is abnormal, with the greater horns, body and lesser horns being unrecognizable (6 out of 6)
(J:21034)
• in all mice
(J:21009)
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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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• unilateral in 2 of 5 mice
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• with increased diameter of ossification
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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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• 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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• 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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• at E18.5
|
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• absence of the motor nucleus
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• in all mice
|
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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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• in some mice
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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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• unilateral in 2 of 5 mice
|
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• with increased diameter of ossification
|
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• delayed ossification of the metacarpals and/or phalanges
|
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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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• 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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• 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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• sagittal median cleft
|
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• bilateral agenesis of the auricle
|
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• at E18.5
|
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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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• 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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• small or absent eyes in some mice at E18.5
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• the ventricular myocardium is abnormally thin (2 out of 5)
|
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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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• 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)
|
|
• in all mice
|
|
• 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 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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• 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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• 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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• 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
|
|
• reduced to laterocaudal rudiments, replaced with aggregates of cartilaginous and bony nodules or rods
|
|
• replaced with aggregates of cartilaginous and bony nodules or rods
|
|
• the shape of the arytenoid cartilage is unrecognizable (6 out of 6)
|
|
• the shape of the cricoid cartilage is unrecognizable (6 out of 6)
|
|
• the shape of the thyroid cartilage was unrecognizable (6 out of 6)
|
|
• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused
|
|
• the bifurcation of the tracheal cartilage that gives rise to the bronchi occurs prematurely (6 out of 6)
|
|
• the cricoid cartilage is abnormally fused to the tracheal rings (6 out of 6)
|
|
• the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (6 out of 6)
|
|
• the trachea is shorter than normal
|
|
• 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)
|
|
• the distal portions of the right and left 6th aortic arches are unidentifiable (3 out of 5)
|
|
• 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
|
|
• the caudal most Wolffian duct is absent in males at E11.5 (2 out of 2)
|
|
• open rhombencephalic neural tube at E10.5 and E11.5
|
|
• the distal portions of the right and left 6th aortic arches are unidentifiable (3 out of 5)
|
|
• underossified when present
|
|
• never closes
|
|
• absent medial portions
|
|
• 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
|
|
• larger than in wild-type mice
|
|
• reduced to laterocaudal rudiments, replaced with aggregates of cartilaginous and bony nodules or rods
|
|
• absent prolabium (median third of the upper lip)
|
|
• replaced with aggregates of cartilaginous and bony nodules or rods
|
|
• sagittal median cleft
|
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• bilateral agenesis of the auricle
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice delivered by Cesarean survive less than 12 hours
|
|
• 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
|
|
• at E18.5 the cricoid cartilage is abnormally fused to the tracheal rings (16 out of 16)
|
|
• at E18.5 the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (16 out of 16)
|
|
• in 6 of 16 mice
|
|
• in 3 of 16 mice
|
|
• fusion of cervical neural arches in 5 of 16 mice
• dyssymphysis of cervical neural arches in 10 of 16 mice
|
|
• in 10 of 16 mice
|
|
• in 3 of 16 mice
|
|
• in 4 of 16 mice
|
|
• 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
|
|
• shortened, opened at the caudal end of the second lower molar
|
|
• shortened, opened at the caudal end of the lower incisor
|
|
• 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
|
|
• in 3 of 16 mice
|
|
• frequently bilateral cystic epithelial formations within the parenchyma
|
|
• shortened, opened at the caudal end of the second lower molar
|
|
• shortened, opened at the caudal end of the lower incisor
|
|
• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5
|
|
• 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
|
|
• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5
|
|
• in all mice
|
|
• at E18.5 the cricoid cartilage is abnormally fused to the tracheal rings (16 out of 16)
|
|
• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused
|
|
• at E18.5 the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (16 out of 16)
|
|
|
| ♀ | 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)
|
|
• the right 4th aortic arch that normally persists is lost (2 out of 5)
|
|
• dextroposed ascending aorta - the aorta originates from the right ventricle (2 out of 5)
|
|
• 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)
|
|
• associated with the defect in aortic morphology the aortic valve has 4 cusps
|
|
• the parathyroid glands were rostrally displaced and not associated with the thyroid gland
|
|
• 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)
|
|
• multiple defects in the cartilages that make up the skeleton of, the trachea, the extrapulmonary bronchi, and the larynx were found at E18.5
|
|
• the arytenoid cartilage is smaller than normal (11 out of 11)
|
|
• the shape of the cricoid cartilage is abnormal (11 out of 11)
|
|
• the cricoid cartilage is abnormally fused to the tracheal rings (11 out of 11)
|
|
• the thyroid cartilage is smaller than normal (11 out of 11)
|
|
• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused (11 out of 11)
|
|
• the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (11 out of 11)
|
|
• the arytenoid cartilage is smaller than normal (11 out of 11)
|
|
• the shape of the cricoid cartilage is abnormal (11 out of 11)
|
|
• the cricoid cartilage is abnormally fused to the tracheal rings (11 out of 11)
|
|
• the thyroid cartilage is smaller than normal (11 out of 11)
|
|
• the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (11 out of 11)
|
|
• the right 4th aortic arch that normally persists is lost (2 out of 5)
|
|
• the right 4th aortic arch that normally persists is lost (2 out of 5)
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice delivered by Cesarean survive less than 12 hours
|
| N |
• mice exhibit normal craniofacial skeleton at E18.5
|
|
• in 2 of 9 mice
|
|
• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused
|
|
• at E18.5 the tracheal cartilage rings are severely malformed (9 out of 9)
|
|
• the cricoid cartilage is abnormally fused to the tracheal rings (9 out of 9)
|
|
• with the sublingual caruncle always present
|
|
• with the sublingual caruncle always present
|
|
• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5
|
|
• 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
|
|
• in 7 of 9 mice
|
|
• at E18.5 the tracheal cartilage rings are severely malformed (9 out of 9)
|
|
• the cricoid cartilage is abnormally fused to the tracheal rings (9 out of 9)
|
|
• in 5 of 9 mice
|
|
• in 2 of 9 mice
|
|
• in 5 of 9 mice
|
|
• C2 to C1 in 2 of 9 mice
• C6 to C5 in 1 of 9 mice
|
|
• in all mice, chondrified
|
|
• bilateral absence of the epithelial rudiments of all intraorbital glands (including lachrymal and Harderian glands) in all mice at E18.5
|
|
• in all mice, chondrified
|
|
• small in all mice
|
|
• in all mice
|
|
• in all mice
|
|
• in all mice
|
|
• in 1 of 6 mice
|
|
• in some mice
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• considerably reduced
|
|
• malformed basioccipital bones in 1/3 of double homozygotes
|
|
• ectopic anterior arch on C3 in 83% of homozygotes
|
|
• basioccipital bone sometimes fuses to anterior arch of C1
|
|
|
• homozygous males are infertile but homozygous females are fertile
|
|
• malformed basioccipital bones in 1/3 of double homozygotes
|
|
• basioccipital bone sometimes fuses to anterior arch of C1
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• die within at most 12 hours following cesarian delivery at E18.5
|
|
• 100% of mutants show skeletal malformations
|
|
• 5 of 13 (38%) mutants exhibit a posterior tubercle on the basioccipital bone
|
|
• 12 of 13 mutants exhibit agenesis of the metoptic pillar
|
|
• 100% of mutants exhibit hypoplasia of ethmoturbinates
|
|
• 1 of 13 (8%) mutants shows sternum malformations
|
|
• 3 of 13 (23) mutants show fusion of the basioccipital with C1-AA
|
|
• 5 of 13 (38%) mutants show fusion of C1-AA with C2 dens
|
|
• 100% of mutants have a bifid C2
|
|
• 100% of mutants show dyssymphysis of C1 neural arch
|
|
• 6 of 13 (46%) mutants show fusions of neural arches of C2 and C3
|
|
• 4 of 13 (31%) mutants show anterior transformation of T8 to T7
|
|
• 5 of 13 (38%) mutants show anterior transformation of C2 to C1
|
|
• 100% of mutants show tracheal cartilage malformations
|
|
• 100% of mutants show cricoid cartilage fused to tracheal rings
|
|
• 12 of 13 mutants exhibit agenesis of the metoptic pillar
|
|
• coloboma of the optic disk is seen in some mutants
|
|
• agenesis of the iris stroma is seen at E18.5
|
|
• coloboma of the iris is seen in one mutant at E14.5
|
|
• small conjunctival sac; bilateral
|
|
• agenesis of the corneal stroma at E14.5 and E18.5
|
|
• agenesis of the anterior chamber is seen at E18.5
|
|
• the equatorial cells are missing in all lenses at E16.5 and E18.5
• lens degeneration is seen in all E18.5 mutants
|
|
• the secondary fibers within the lens show features of degeneration, such as swelling and vacuolation of the cytoplasm
|
|
• the palpebral aperture is reduced to a narrow slit in all E14.5 mutants
|
|
• agenesis of the naso-lacrimal duct is seen at E18.5
|
|
• shortening of the ventral retina in all E14.5 mutants that is associated with a ventral rotation of the lens
|
|
• in 3 of 5 E14.5 mutants, vacuoles are seen between the neuroblasts located at the interface of the outer nuclear layer (ONL) and inner nuclear layer (INL)
|
|
• at E18.5, the IPL is essentially lacking
|
|
• neural retina shows extensive foldings
|
|
• the primary vitreous body completely fills the space between the retina and the lens due to extensive cell proliferation
• the secondary vitreous does not form
|
|
• complete penetrance of persistent hyperplastic primary vitreous at E18.5
|
|
• absent sclera
|
|
• about 25% of mutants exhibit abnormalities of the great arteries derived from the 3rd, 4th, and 6th aortic arches
|
|
• 5 of 13 (38%) mutants exhibit a posterior tubercle on the basioccipital bone
|
|
• 12 of 13 mutants exhibit agenesis of the metoptic pillar
|
|
• 3 of 13 (23) mutants show fusion of the basioccipital with C1-AA
|
|
• 100% of mutants exhibit hypoplasia of ethmoturbinates
|
|
• 100% of mutants show shortening of the sublingual duct
|
|
• 100% of mutants show shortening of the sublingual duct
|
|
• agenesis of the Harderian glands is seen at E18.5
|
|
• 3 of 7 mutants exhibit hydronephrosis, most likely caused by abnormalities of the caudal ureters
|
|
• 3 of 7 mutants show agenesis of the caudal ureter and 1 of 7 mutants show an ectopic ureteral opening
|
|
• 1 of 7 mutants show an ectopic ureteral opening
|
|
• 100% of mutants exhibit hypoplasia of ethmoturbinates
|
|
• 100% of mutants show tracheal cartilage malformations
|
|
• 100% of mutants show cricoid cartilage fused to tracheal rings
|
|
• coloboma of the optic disk is seen in some mutants
|
|
• 100% of mutants exhibit hypoplasia of ethmoturbinates
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 5 of 6 E18.5 mutants show a bilateral persistent hyperplastic primary vitreous
|
|
• 46% of mutants exhibit skeletal malformations
|
|
• 1 of 13 (8%) mutants exhibit a posterior tubercle on the basioccipital bone
|
|
• 1 of 13 (8%) exhibit sternum malformations
|
|
• 3 of 13 (23%) of mutants exhibit fusion of C1-AA with C2 dens
|
|
• 2 of 13 (15%) mutants exhibit a bifid C2
|
|
• 1 of 13 (8%) mutants exhibit a posterior tubercle on the basioccipital bone
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 4 of 12 mutants exhibit agenesis of the metoptic pillar
|
|
• 4 of 12 mutants exhibit agenesis of the metoptic pillar
|
|
• 5 of 6 E18.5 mutants show a bilateral persistent hyperplastic primary vitreous
|
|
• 4 of 12 mutants exhibit agenesis of the metoptic pillar
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• 100% of mutants show skeletal malformations
|
|
• 2 of 14 (14%) mutants exhibit a posterior tubercle on the basioccipital bone
|
|
• 11 of 14 mutants exhibit agenesis of the metoptic pillar
|
|
• 100% of mutants show tracheal cartilage malformations
|
|
• 11 of 14 (79%) of mutants show cricoid cartilage fused to tracheal rings
|
|
• 2 of 14 (14%) mutants show fusion of the basioccipital with C1-AA
|
|
• 2 of 14 (14%) mutants show fusion of C1-AA with C2 dens
|
|
• 12 of 14 (86%) of mutants have a bifid C2
|
|
• 1 of 14 (7%) mutants show fusions of neural arches of C2 and C3
|
|
• 5 of 14 (36%) mutants show anterior transformation of T8 to T7
|
|
• 2 of 14 (14%) mutants show anterior transformation of C2 to C1
|
|
• 11 of 14 mutants exhibit agenesis of the metoptic pillar
|
|
• E18.5 mutants show a bilateral persistent hyperplastic primary vitreous
|
|
• the palpebral aperture is reduced to a narrow slit in all E14.5 mutants
|
|
• 2 of 14 (14%) mutants exhibit a posterior tubercle on the basioccipital bone
|
|
• 11 of 14 mutants exhibit agenesis of the metoptic pillar
|
|
• 2 of 14 (14%) mutants show fusion of the basioccipital with C1-AA
|
|
• agenesis of the Harderian glands is seen at E18.5
|
|
• 100% of mutants show tracheal cartilage malformations
|
|
• 11 of 14 (79%) of mutants show cricoid cartilage fused to tracheal rings
|
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 12/17/2024 MGI 6.24 |
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