Phenotypes Associated with This Genotype

Genotype
MGI:4437295

• Allelic Composition: Amhr2^tm3(cre)Bhr/Amhr2⁺; Smad1^tm2Rob/Smad1^tm2Rob; Smad5^tm1Huy/Smad5^tm1Huy
• Genetic Background: involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J

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

mortality/aging

premature death ( J:157310 )

• 33% of mutant females survived to 32 weeks

• 50% survival at approximately 29 week of age

neoplasm

increased granulosa cell tumor incidence ( J:157310 )

♀ • develop granulosa cell tumors early during sexual maturity (at least by 8 wk of age)

♀ • tumor characteristic: lacked nuclear grooves, infrequently contained Call-Exner bodies, high mitotic index, increased serum Inhibin A and anti-Mullerian hormone (AMH) level

♀ • AMH expression in primary tumors and tumor cells as they metastasize outside the ovary

homeostasis/metabolism

suppressed circulating follicle stimulating hormone level ( J:157310 )

endocrine/exocrine glands

increased granulosa cell tumor incidence ( J:157310 )

♀ • develop granulosa cell tumors early during sexual maturity (at least by 8 wk of age)

♀ • tumor characteristic: lacked nuclear grooves, infrequently contained Call-Exner bodies, high mitotic index, increased serum Inhibin A and anti-Mullerian hormone (AMH) level

♀ • AMH expression in primary tumors and tumor cells as they metastasize outside the ovary

reproductive system

increased granulosa cell tumor incidence ( J:157310 )

♀ • develop granulosa cell tumors early during sexual maturity (at least by 8 wk of age)

♀ • tumor characteristic: lacked nuclear grooves, infrequently contained Call-Exner bodies, high mitotic index, increased serum Inhibin A and anti-Mullerian hormone (AMH) level

♀ • AMH expression in primary tumors and tumor cells as they metastasize outside the ovary

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ovarian cancer		DOID:2394	OMIM:167000 OMIM:607893	J:157310