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Phenotypes Associated with This Genotype
Genotype
MGI:5440238
Allelic
Composition
Amhr2tm3(cre)Bhr/Amhr2+
Stk11tm1Rdp/Stk11tm1Rdp
Genetic
Background
involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amhr2tm3(cre)Bhr mutation (1 available); any Amhr2 mutation (27 available)
Stk11tm1Rdp mutation (1 available); any Stk11 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• progressive premature germ cell loss
• adult Sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age

reproductive system
• progressive premature germ cell loss
• testicular junction integrity is compromised
• adult Sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age
• by 5 months of age, mutants exhibit decreased tubular width accompanied by progressive germ cell loss and tubules with only Sertoli cells, indicating a Sertoli cell only phenotype
• at 4 weeks, vacuolization of seminiferous epithelium is seen in a few seminiferous tubules
• by 10 weeks of age, normal germ cell arrangement in the seminiferous tubules is disrupted and prominent vacuolization of the seminiferous epithelium is seen in most of the tubules
• Sertoli cells show disruption of the spoke-like pattern of microtubules and loss of apical extensions, and disruption of actin filament arrangement, indicating disruption of polarity
• immature round germ cells are seen in the epididymides whereas only mature elongated germ cells are seen in controls indicating defective germ cell differentiation

endocrine/exocrine glands
• testicular junction integrity is compromised
• adult Sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age
• by 5 months of age, mutants exhibit decreased tubular width accompanied by progressive germ cell loss and tubules with only Sertoli cells, indicating a Sertoli cell only phenotype
• at 4 weeks, vacuolization of seminiferous epithelium is seen in a few seminiferous tubules
• by 10 weeks of age, normal germ cell arrangement in the seminiferous tubules is disrupted and prominent vacuolization of the seminiferous epithelium is seen in most of the tubules
• Sertoli cells show disruption of the spoke-like pattern of microtubules and loss of apical extensions, and disruption of actin filament arrangement, indicating disruption of polarity

neoplasm
N
• testicular tumors are not observed up to 10 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Peutz-Jeghers syndrome DOID:3852 OMIM:175200
J:187754


Contributing Projects:
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
04/30/2024
MGI 6.23
The Jackson Laboratory