Analysis Tools
reproductive system
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• male infertility due to degeneration of seminiferous tubules
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endocrine/exocrine glands
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Allele Symbol Allele Name Allele ID |
B4galnt1tm1Rlp targeted mutation 1, Richard L Proia MGI:2158349 |
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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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• male infertility due to degeneration of seminiferous tubules
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
Hexbtm1Rlp/Hexbtm1Rlp B4galnt1tm1Rlp/B4galnt1tm1Rlp mice have a hunched posture and are disheveled compared to B4galnt1tm1Rlp/B4galnt1tm1Rlp mice
| N |
• most mice survive past 300 days of age
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• rotarod performance impaired but stable through time
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• fine to coarse vacuoles in the cell bodies of neurons
• vacuoles are relatively empty with relatively little electron dense material
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• accumulate abnormal amounts of oligosaccharide
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• extensive loss of cerebellar purkinje cells by 8.5 months of age
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• vacuolated macrophage found in liver, spleen and kidney
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• vacuolated epithelial cells
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• vacuolated macrophage found in liver, spleen and kidney
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• impaired righting reflexes seen at 23 weeks of age
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• progressive impairment of rotorod performance
• becoming worse than double homozygotes by 21 weeks of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 50% of mice die by 13 weeks
• 92% of mice die by 36 weeks
• 9 of 10 mice die during the tonic phase of an audiogenic seizure due to respiratory arrest
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• sperm maturation is defective
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| N |
• mice exhibit no neuronal cell loss or demyelination
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• some mice exhibit spontaneous and/or handling-induced seizures unlike wild-type mice
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• beginning as a brief wild-running phase and followed by a clonic-tonic seizure
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• 9 of 10 mice die during the tonic phase of a seizure due to respiratory arrest
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• some mice exhibit spontaneous and/or handling-induced seizures unlike wild-type mice
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• beginning as a brief wild-running phase and followed by a clonic-tonic seizure
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• majority of ice die over the subsequent 2 months after weaning at 3 weeks, with only rare mice surviving to 5 months of age
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• mice develop tremors at 2 weeks of age which become more severe with increasing age
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• mice develop ataxia at 2 weeks of age which becomes more severe with increasing age
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• mice develop hind limb weakness at 2 weeks of age which becomes more severe with increasing age
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• apoptotic cells in the cerebral cortex
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• sialidase treatment of the acidic lipid fraction results in the conversion of the major ganglioside species to neolactotetraosylceramide or lactotetraosylceramide instead of the mono-sialyl ganglioside GM1 as in wild-type mice
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• absence of the major brain gangliosides species ceramide and hexosylceramide
• presence of lactosylceramide as a major acidic lipid species and the complex sulfatide SM3 (lactosylceremiade sulfate) in the brain which are not seen in wild-type mice
• interruption of ganglioside synthesis in neurons resulting in a shift toward synthesis of lactosylceramide and lactosylcermaide-3-sulfate
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• apoptotic cells in the cerebral cortex
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• brains are slightly smaller at 1 month of age and show a progressive decrease in size between 2-3 months of age
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• vacuolization in the cerebellar white matter is seen at 1 month of age
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• vacuolization in the brain stem fiber tracts is seen at 1 month of age
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• vacuolization in the spinal and cerebellar white matter and in the brainstem fiber tracts is seen at 1 month of age
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• mice show an astrocytic response in the brains, especially in the surrounding white matter regions, prominent around the corpus callosum and in the white matter tract of the cerebellum and within the cerebellar molecular layer
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• oligodendrocytes contain massive cytoplasmic vacuoles
• however, oligodendrocyte differentiation is normal
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• tubulovesicular structures are seen in the cerebellar axons
• transverse bands, normally present in regularly arrayed electron densities in the periaxonal space, are not properly formed
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• paranode loops that face away from the axon are seen
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• paranodal loops of myelin in the node of Ranvier that are not tightly associated with the axonal membrane, indicating abnormal axonal-glial interactions
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• vacuolization in the spinal white matter is seen at 1 month of age
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• degeneration of myelinated axons
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• axonal spheroid formation is seen in the cerebellar white matter and granular layers, indicating neurodegeneration
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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 04/30/2024 MGI 6.23 |
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