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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 (29 available)
Stk11tm1Rdp mutation (1 available); any Stk11 mutation (35 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
decreased male germ cell number ( J:187754 )
• progressive premature germ cell loss
increased Sertoli cell proliferation ( J:187754 )
• adult Sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age

reproductive system
decreased male germ cell number ( J:187754 )
• progressive premature germ cell loss
abnormal testis morphology ( J:187754 )
• testicular junction integrity is compromised
increased Sertoli cell proliferation ( J:187754 )
• adult Sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age
abnormal seminiferous tubule morphology ( J:187754 )
• 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
abnormal seminiferous tubule epithelium morphology ( J:187754 )
• 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
abnormal Sertoli cell morphology ( J:187754 )
• 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
abnormal spermatogenesis ( J:187754 )
• 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
abnormal testis morphology ( J:187754 )
• testicular junction integrity is compromised
increased Sertoli cell proliferation ( J:187754 )
• adult Sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age
abnormal seminiferous tubule morphology ( J:187754 )
• 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
abnormal seminiferous tubule epithelium morphology ( J:187754 )
• 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
abnormal Sertoli cell morphology ( J:187754 )
• 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
neoplasm ( J:187754 )
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory