mortality/aging
• early embryonic cell lethality occurs for homozygotes due to defects in DNA replication
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Allele Symbol Allele Name Allele ID |
Pcnatm1.1Mdsc targeted mutation 1.1, Matthew D Scharff MGI:3817295 |
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Summary |
2 genotypes
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
• early embryonic cell lethality occurs for homozygotes due to defects in DNA replication
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♀ | phenotype observed in females |
♂ | phenotype observed in males |
N | normal phenotype |
N |
• the early embryonic lethality associated with Pcnatm1.1Mdsc homozygotes is rescued by the presence of the transgene
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• most meiotic chromosomes in mutant mice display elongated chromosome axes
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• testis are 40% the size of wild-type testis
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• meiotic progression is disrupted at early pachynema resulting in a complete loss of spermatocytes
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• mice are sterile
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• there is a 50% reduction of IgG3 surface expression compared to wild-type on B cells stimulated ex vivo with LPS to induce switching from IgM to IgG3
• there is a 25% reduction of surface IgG1 expression compared to wild-type on B cells stimulated ex vivo with LPS and IL-4 to induce switching to IgG1
• the decrease in switching to IgG1 accumulated after the second division, indicating a decrease in switching at each generation
• switch junctions between mu and gamma3 segments contain less mutations than in wild-type B cells
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• splenic B cells had a higher rate of somatic mutations in the rearranged V186.2 gene segment after immunization with NP antigen
• the overall frequency of unique mutations at the V186.2 gene segment was 9.1 x 10-2 mutations/base, which was significantly higher than the 7.2 x 10-2 mutations/base detected in wild-type mice
• mutations that occur at A:T site is reduced by about 2-fold while the frequency of C:G mutations is increased by 2-fold
• there is also an increase in mutations of GYW motifs that are considered a sight of action for activation-induced cytidine deaminase
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• there is a 50% reduction of IgG3 surface expression compared to wild-type on B cells stimulated ex vivo with LPS to induce switching from IgM to IgG3
• there is a 25% reduction of surface IgG1 expression compared to wild-type on B cells stimulated ex vivo with LPS and IL-4 to induce switching to IgG1
• the decrease in switching to IgG1 accumulated after the second division, indicating a decrease in switching at each generation
• switch junctions between mu and gamma3 segments contain less mutations than in wild-type B cells
|
• splenic B cells had a higher rate of somatic mutations in the rearranged V186.2 gene segment after immunization with NP antigen
• the overall frequency of unique mutations at the V186.2 gene segment was 9.1 x 10-2 mutations/base, which was significantly higher than the 7.2 x 10-2 mutations/base detected in wild-type mice
• mutations that occur at A:T site is reduced by about 2-fold while the frequency of C:G mutations is increased by 2-fold
• there is also an increase in mutations of GYW motifs that are considered a sight of action for activation-induced cytidine deaminase
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• testis are 40% the size of wild-type testis
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• most meiotic chromosomes in mutant mice display elongated chromosome axes
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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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