Analysis Tools
mortality/aging
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• no homozygotes are viable after E9.5
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Allele Symbol Allele Name Allele ID |
Stk11tm1.1Mlfr targeted mutation 1.1, Marsha L Frazier MGI:3612540 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no homozygotes are viable after E9.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice have reduced life spans with 50% dying before 14 months of age
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• abdomen becomes increasingly distended during aging
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• 9 of 13 heterozygotes displayed organomegaly of the spleen, lung, liver, stomach, and intestine
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• 9 of 13 heterozygotes displayed organomegaly of the liver
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• 9 of 13 heterozygotes displayed organomegaly of the spleen
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• 9 of 13 heterozygotes displayed organomegaly of the intestine
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• 9 of 13 heterozygotes displayed organomegaly of the stomach
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• at 6 months of age, polyps are observed, and by 6.5 months, approximately 75% of mice have gastrointestinal polyps
• polyps are mainly located at the junction of the pylorus and duodenum with a few found in the antrum and fundus of the stomach
• polyps in the pylorus are large while those in the antrum or fundus are smaller
• large polyps in the pylorus protrude into the duodenum causing gross distention and obstruction
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• all of the polyps are hamartomas
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• 9 of 13 heterozygotes displayed organomegaly of the liver
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• 9 of 13 heterozygotes displayed organomegaly of the spleen
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• 9 of 13 heterozygotes displayed organomegaly of the spleen
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Peutz-Jeghers syndrome | DOID:3852 |
OMIM:175200 |
J:104347 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• Approximately 50% die by 10 months of age, significantly sooner than either single heterozygote
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• time to onset of polyposis is similar to single heterozygotes
• 92% of moribund mice between 7 and 14 months of age have gastrointestinal polyps
• polyps are not found before 5.5 months of age, but at 6.5 months are seen in 60% of mice
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• mice have enlarged abdomens due to presence of polyps in pylorus and duodenum
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• polyps are hamartomas
• tumor-free survival rate is about 11 months compared with 17 months for Trp53 single heterozygotes
• 23 of 38 (61%) of double heterozygotes developed a total of 30 tumors
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• 20% (6 of 30) tumors are lymphomas
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• 10% (3 of 30) of the tumors are sarcomas
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• 43% of the tumors (13 of the 30) are osteosarcomas
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• 43% of the tumors (13 of the 30) are osteosarcomas
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Peutz-Jeghers syndrome | DOID:3852 |
OMIM:175200 |
J:104347 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice have median age of survival of 4.5 months, similar to Trp53 homozygotes
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• 2 of 7 mice have polyps on their lare intestines
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• hamartomatous polyps can be identified at 4.3 months of age, earlier than in double heterozygotes or Stk11 single heterozygotes
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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 05/14/2024 MGI 6.23 |
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