Mouse Genome Informatics
cn1
    Amhr2tm3(cre)Bhr/Amhr2+
Stk11tm1Rdp/Stk11tm1Rdp

involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
reproductive system
• testicular junction integrity is compromised (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 (J:187754)
• at 4 weeks, vacuolization of seminiferous epithelium is seen in a few seminiferous tubules (J:187754)
• 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 (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 (J:187754)
• adult sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age (J:187754)
(J:187754)
• in adults (J:187754)
• progressive premature germ cell loss (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 (J:187754)

endocrine/exocrine glands
• testicular junction integrity is compromised (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 (J:187754)
• at 4 weeks, vacuolization of seminiferous epithelium is seen in a few seminiferous tubules (J:187754)
• 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 (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 (J:187754)
• adult sertoli cells show disruption of cell cycle quiescence and thus increased proliferation in mice older than 4 months of age (J:187754)
(J:187754)
• in adults (J:187754)

tumorigenesis
N
• testicular tumors are not observed up to 10 months of age (J:187754)

Mouse Models of Human Disease
OMIM IDRef(s)
Peutz-Jeghers Syndrome; PJS 175200 J:187754


Mouse Genome Informatics
cn2
    Stk11tm1Rdp/Stk11tm1Rdp
Tg(MMTV-Erbb2*,-cre)1Mul/0

involves: 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
tumorigenesis
• 50% of nulliparous female mice develop tumors by 147 days of age, compared to nulliparous wild-type females which do not develop tumors (during period of observation) (J:198481)
• 50% of nulliparous female mice develop tumors by 147 days of age, compared to nulliparous wild-type females which do not develop tumors (during period of observation) (J:198481)

endocrine/exocrine glands
• tissue adjacent to primary tumors display abnormal luminal growth, possibly an early sign of tumors (J:198481)

integument
• tissue adjacent to primary tumors display abnormal luminal growth, possibly an early sign of tumors (J:198481)