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Allele Symbol Allele Name Allele ID |
Glrbspa spastic MGI:1856363 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type
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• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in all 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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• percentage of mortality is high before or around weaning, although some can live almost a normal life span
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• suffer from periods of spasticity which vary in length from one to several minutes; they walk in short steps, on tip-toe and arch their backs
(J:5196)
• spasticity is induced by sudden handling
(J:5196)
• sudden disturbance or handling causes spasms in which the back is stiff and arched, the legs are stiff and stretched, and the toes are extended
(J:13079)
• when held by their tails, backs become stiff and bodies and legs quiver with a high frequency of vibration
(J:13079)
• mutants are recognizeable by 14 days of age
(J:13079)
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• during a spasm, have great difficulty in turning over after being laid on the table with the belly facing upward
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• exhibit increased startle responses to acoustic stimuli of different intensities
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• when lifted up by the tail, backs stiffen and the entire body and legs quiver violently, indicating tremor
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• lack facility in swimming
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• in severe cases of spasms, mutants are arch-backed and slide on the table
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• walk on tip-toe during a stimulus-induced spasm
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• walk in short steps during a stimulus-induced spasm
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• females produce young but are poor mothers, possibly because of physical difficulties
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• frequency of litters from abnormal males is much lower
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• vertebral column abnormalities, with the lumbar region most severely affected, that include intervertebral enchondrosis, hyperplasia of fibrocartilage, and intervertebral arthrosis, probably resulting from disc herniations and ossification
• as early as 24 days of age, exhibit formation of leptomeningeal cysts in the vertebral column, usually located medial to spinal nerve roots
• cysts are lined with a single or multiple layer of cuboidal epithelium and filled with a mucoid fluid and cellular debris and are located between the dura and the spinal cord
• the dorsal longitudinal ligament is thinner dorsally than medially
• in older mutants, the mucoid material ossifies and adheres to the spinal meninges
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• acute or subacute disc herniations; rupture of the annulus fibrosus leading to extrusion of the nucleus pulposus
• herniations of the nucleus pulposus are always dorsal or dorsolateral rather than medially
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• skeleton becomes brittle with increasing age
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• occasionally Purkinje cells are lost
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• as cysts become distended with fluid, the dura is displaced laterally against the wall of the vertebral canal
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• necrobiotic changes involve the neurons of the spinal ganglia with certain of these calcifying and many have eccentric nuclei
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• compression of the spinal roots by leptomeningeal cysts, leading to impingment of spinal root axons
• nerve fiber myelin and axonal changes occur in spinal roots, spinal nerves, cauda equina, and sciatic nerves
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• disc protrusions indent the ventral aspects of the spinal cord; indentations are often deep enough to alter the normal shape and symmetry of the spinal cord both in the white and grey matter
• white matter atrophies at the sites of compression
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• ventral horn neurons become flattened or stretched due to the compression of the spinal cord and undergo degenerative changes, such as shrinkage, vacuolation, and necrobiosis
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• disk herniations cause hemorrhage
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• adrenal corticism is more evident in older mutants, beginning at about 2 months of age
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• enlarged due to cortical hypertrophy and hyperplasia
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| hyperekplexia 2 | DOID:0060697 |
OMIM:614619 |
J:33924 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• in mutants, the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type
|
|
|
• the zona pellucida-initiated acrosome reaction is significantly decreased compared to wild-type
|
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• male mice exhibit normal fertility unlike Glrbspa homozygotes
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• in 14% of mice compared with 100% of Glrbspa homozygotes
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• in 32% of mice compared with 100% of Glrbspa homozygotes
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• between 2 and 10 days, mice exhibit transient handling-induced tremors
• after 20 to 35 days, mice exhibit tremors that are less strong than in Glrbspa homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• not as severe as in Glrbspa homozygotes
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• in 52% of mice compared with 100% of Glrbspa homozygotes
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• in 71% of mice compared with 100% of Glrbspa homozygotes
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• mice exhibit a less severe spastic phenotype compared with Glrbspa homozygotes
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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 05/07/2024 MGI 6.23 |
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