Phenotypes Associated with This Genotype

Genotype
MGI:3616342

• Allelic Composition: Stk11^tm1.1Mlfr/Stk11⁺
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:104347 )

• mice have reduced life spans with 50% dying before 14 months of age

growth/size/body

distended abdomen ( J:104347 )

• abdomen becomes increasingly distended during aging

visceromegaly ( J:104347 )

• 9 of 13 heterozygotes displayed organomegaly of the spleen, lung, liver, stomach, and intestine

enlarged liver ( J:104347 )

• 9 of 13 heterozygotes displayed organomegaly of the liver

enlarged spleen ( J:104347 )

• 9 of 13 heterozygotes displayed organomegaly of the spleen

digestive/alimentary system

abnormal intestine morphology ( J:104347 )

• 9 of 13 heterozygotes displayed organomegaly of the intestine

enlarged stomach ( J:104347 )

• 9 of 13 heterozygotes displayed organomegaly of the stomach

gastric polyps ( J:104347 )

• 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

neoplasm

increased hamartoma incidence ( J:104347 )

• all of the polyps are hamartomas

liver/biliary system

enlarged liver ( J:104347 )

• 9 of 13 heterozygotes displayed organomegaly of the liver

immune system

enlarged spleen ( J:104347 )

• 9 of 13 heterozygotes displayed organomegaly of the spleen

hematopoietic system

enlarged spleen ( J:104347 )

• 9 of 13 heterozygotes displayed organomegaly of the spleen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Peutz-Jeghers syndrome		DOID:3852	OMIM:175200	J:104347