normal phenotype
• animals are born at normal Mendelian frequency and survive through adulthood
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Allele Symbol Allele Name Allele ID |
Rettm1.1Pern targeted mutation 1.1, Patrik Ernfors MGI:4440475 |
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Summary |
2 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• animals are born at normal Mendelian frequency and survive through adulthood
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• at E18.5, a 20% decrease in motor neuron nuclei is detected, with a 42% reduction in adult animals
• no further loss of motor neurons is observed after axotomy compared to wild-type
• no increase in cell death after nerve lesion is observed relative to controls
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• at E18.5, a 22% decrease in motor neuron nuclei is detected, with a 37% decrease observed in adult mice
• after axotomy, almost 2x the number of regenerating motor neurons are lost compared to wild type animals
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• synaptic maturation is impaired; quantification of synaptophysin, synapsin and AChR shows loss of synaptophysin and synapsin at E18 but not in adult mice, but AChR quantification is similar between genotypes
• adult mice have significantly fewer endplates than control mice
• after transection of the hypoglossal nerve, size of the AChR postsynaptic membrane is larger in the reinnervated synapses in lesioned mutants with more diffuse AChR localizations within the specialization; numbers of neurofilament-positive fibers and volume occupied by these fibers are not different from control mice
• reduction of AChRs, synapsin I and synaptophysin is observed compared to lesioned controls, but number os endplates is similar between lesioned control and mutant animals
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N |
• kidneys develop normally
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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 08/21/2024 MGI 6.24 |
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