Analysis Tools|
Allele Symbol Allele Name Allele ID |
ScribCrc circletail MGI:1889322 |
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| Summary |
15 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• all embryos fail to achieve neural tube closure 1 between the 5- and 8-somite stages
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• all embryos fail to achieve neural tube closure 1 between the 5- and 8-somite stages
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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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• homozygotes die at birth
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• by E9, neural tube fails to close along its rostrocaudal length from midbrain to tail
• skin excision bordering neural tube is prominent
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• outpouching of forebrain tissue
• distortion of lateral ventricles and disappearance of third ventricle over time
• optic chiasm tends to form more caudal to anterior commissure
• glial palisade at chiasm is wider and thicker and is interrupted by an unidentified knot of tissue
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• distortion of lateral ventricles
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• disappearance of third ventricle over time
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• retinal axon projections form an H shaped optic chiasm at E15
• retinal axons project correctly toward the dorsal thalamus, but fail to terminate
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• optic chiasm tends to form more caudal to anterior commissure
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• prominent encephalocele
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• several day delay with a severe rightward kink of the body axis that lessens after turning
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• smaller in size than normal littermates
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• lower in weight than normal littermates
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• by E9, neural tube fails to close along its rostrocaudal length from midbrain to tail
• skin excision bordering neural tube is prominent
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• retinal axon projections form an H shaped optic chiasm at E15
• retinal axons project correctly toward the dorsal thalamus, but fail to terminate
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• optic chiasm tends to form more caudal to anterior commissure
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• observed at E15
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• eyelids do not form
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• shrunken vitreous region
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• disorganized distribution of retinal ganglion cells
• ganglion cell nuclei are smaller than wild-type at E15
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• thickened neural retina
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• smaller in size than normal littermates
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• lower in weight than normal littermates
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• gastroschisis or externalization of abdominal contents observed in all embryos with craniorachischisis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fully penetrant
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• fully penetrant
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• die at birth
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• embryos initiate neural tube closure similarly to wild-type embryos
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in some mice, tail defect appears as a complete looping or circling of tail
• defect appears 10 fold more frequently in males
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• in some mice, tail defect appears as a bend or kink in middle portion
• defect appears 10 fold more frequently in males
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• incomplete penetrance (about 5%) of circled-tail, almost exclusively in males
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• skewed body axis in some mutants
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• lumbosacral open spina bifida in 2% of mutants (1 of 41); this mouse shows partially closed eyelids
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• 42% of mutants exhibit craniorachischisis, most often isolated (32% of mutants) but sometimes associated with abdominal wall defect and a skewed body axis (10% of mutants)
• however, 46% of mutants appear normal
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• abdominal wall defect in some mutants
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• 2% of mutants exhibit a looped tail
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• lumbosacral open spina bifida in 2% of mutants (1 of 41); this mouse shows partially closed eyelids
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• 42% of mutants exhibit craniorachischisis, most often isolated (32% of mutants) but sometimes associated with abdominal wall defect and a skewed body axis (10% of mutants)
• however, 46% of mutants appear normal
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• isolated exencephaly in 7% of mutants
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• mutants with craniorachischisis show completely open eyelids at E16.5
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• 50% of mutants (5 of 10) exhibit failure of eyelid formation at E16.5
• mutants with craniorachischisis show completely open eyelids
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neural tube defect | DOID:0080074 |
OMIM:301410 OMIM:601634 |
J:216413 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 62% mutants exhibit craniorachischisis, most often isolated (in 56% of mutants), but sometimes associated with abdominal wall defect (6% of mutants)
• however, 39% mutants appear normal
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• 1 of 18 mutants with craniorachischisis show an abdominal wall defect
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• 62% mutants exhibit craniorachischisis, most often isolated (in 56% of mutants), but sometimes associated with abdominal wall defect (6% of mutants)
• however, 39% mutants appear normal
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• some mutants with craniorachischisis show eyelid closure defects
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neural tube defect | DOID:0080074 |
OMIM:301410 OMIM:601634 |
J:216413 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• skewed body axis in some mutants
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• 81% of mutants exhibit craniorachischisis, most often isolated (in 50% of mutants) but sometimes associated with abdominal wall defect (in 31% of mutants) and a skewed body axis
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• 3% of mutants exhibit only an abdominal wall defect while 31% exhibit both abdominal wall defect and craniorachischisis
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• 6% of mutants exhibit a looped tail
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• 13% of mutants are viable postnatally
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• 81% of mutants exhibit craniorachischisis, most often isolated (in 50% of mutants) but sometimes associated with abdominal wall defect (in 31% of mutants) and a skewed body axis
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• 3% of mutants exhibit exencephaly
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• all mutants exhibit failure of eyelid closure at E16.5; all these have craniorachischisis
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| neural tube defect | DOID:0080074 |
OMIM:301410 OMIM:601634 |
J:216413 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 2 of 3 mutants exhibit craniorachischisis
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• 1 of 3 mice exhibits hindbrain exencephaly and a tail defect
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• 2 of 3 mutants exhibit craniorachischisis
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• 1 of 3 mice exhibits hindbrain exencephaly and a tail defect
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 8% of embryos develop craniorachischisis
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• 8% of embryos develop craniorachischisis
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 29 of 54 double heterozygotes exhibit craniorachisichisis and the remainder had either spina bifida or a looped tail
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• in a small minority of double heterozygotes
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• 29 of 54 double heterozygotes exhibit craniorachisichisis and the remainder had either spina bifida or a looped tail
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• retinal axons project in circuitous, intersecting patterns across the retina before reaching the optic nerve head instead of a direct trajectory from their cell of origin toward the optic disk
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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 11/12/2024 MGI 6.24 |
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