Phenotypes associated with this allele

• Allele Symbol: Stk11^tm1.1Mlfr
• Allele Name: targeted mutation 1.1, Marsha L Frazier
• Allele ID: MGI:3612540
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Stk11^tm1.1Mlfr/Stk11^tm1.1Mlfr	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3616341
ht2	Stk11^tm1.1Mlfr/Stk11^+	involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J	MGI:3616342
cx3	Stk11^tm1.1Mlfr/Stk11^+ Trp53^tm1Tyj/Trp53^+	involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J	MGI:3616343
cx4	Stk11^tm1.1Mlfr/Stk11^+ Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J	MGI:3616344

Genotype
MGI:3616341

hm1

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

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

mortality/aging

embryonic lethality, complete penetrance ( J:104347 )

• no homozygotes are viable after E9.5

Genotype
MGI:3616342

ht2

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

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

Genotype
MGI:3616343

cx3

• Allelic Composition: Stk11^tm1.1Mlfr/Stk11⁺; Trp53^tm1Tyj/Trp53⁺
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J

mortality/aging

premature death ( J:104347 )

• Approximately 50% die by 10 months of age, significantly sooner than either single heterozygote

digestive/alimentary system

gastric polyps ( J:104347 )

• 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

growth/size/body

distended abdomen ( J:104347 )

• mice have enlarged abdomens due to presence of polyps in pylorus and duodenum

neoplasm

increased hamartoma incidence ( J:104347 )

• 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

increased lymphoma incidence ( J:104347 )

• 20% (6 of 30) tumors are lymphomas

increased sarcoma incidence ( J:104347 )

• 10% (3 of 30) of the tumors are sarcomas

increased osteosarcoma incidence ( J:104347 )

• 43% of the tumors (13 of the 30) are osteosarcomas

skeleton

increased osteosarcoma incidence ( J:104347 )

• 43% of the tumors (13 of the 30) are osteosarcomas

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

Genotype
MGI:3616344

cx4

• Allelic Composition: Stk11^tm1.1Mlfr/Stk11⁺; Trp53^tm1Tyj/Trp53^tm1Tyj
• Genetic Background: involves: 129S2/SvPas * 129S7/SvEvBrd * C57BL/6J

mortality/aging

premature death ( J:104347 )

• mice have median age of survival of 4.5 months, similar to Trp53 homozygotes

digestive/alimentary system

colon polyps ( J:104347 )

• 2 of 7 mice have polyps on their lare intestines

neoplasm

increased hamartoma incidence ( J:104347 )

• hamartomatous polyps can be identified at 4.3 months of age, earlier than in double heterozygotes or Stk11 single heterozygotes