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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Smad1tm2.1Rob
targeted mutation 2.1, Elizabeth J Robertson
MGI:2155485
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cn1
 		Amhr2tm3(cre)Bhr/Amhr2+
Smad1tm2Rob/Smad1tm2.1Rob
Smad5tm1Huy/Smad5tm1Huy 		involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6 MGI:3769364
cn2
 		Amhr2tm3(cre)Bhr/Amhr2+
Smad1tm2Rob/Smad1tm2.1Rob
Smad5tm1Huy/Smad5tm1Huy 		involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J MGI:4437296


Genotype
MGI:3769364
cn1
Allelic
Composition		 Amhr2tm3(cre)Bhr/Amhr2+
Smad1tm2Rob/Smad1tm2.1Rob
Smad5tm1Huy/Smad5tm1Huy
Genetic
Background		 involves: 129P2/OlaHsd * 129S/SvEv * 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)
Smad1tm2.1Rob mutation (0 available); any Smad1 mutation (32 available)
Smad1tm2Rob mutation (1 available); any Smad1 mutation (32 available)
Smad5tm1Huy mutation (0 available); any Smad5 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
early reproductive senescence ( J:128934 )
• female mice become infertile after 3 to 4 months of breeding

reproductive system
increased ovary tumor incidence ( J:128934 )
• after 3 months of age, 100% of female mice have unilateral or bilateral ovarian tumors
increased ovarian carcinoma incidence ( J:128934 )
• over 70% of female mice have metastic ovarian cancer by 1 year of age
increased testis tumor incidence ( J:128934 )
• 100% of male mice by 7 months of age exhibit tumors in the testis
• early stage tumors appear to be sex cord stromal tumors with Sertoli and Leydig cell differentiation
early reproductive senescence ( J:128934 )
• female mice become infertile after 3 to 4 months of breeding
male infertility ( J:128934 )
• slight infertility, with a 16% decrease in litters per month when bred to wild-type females

neoplasm
increased ovary tumor incidence ( J:128934 )
• after 3 months of age, 100% of female mice have unilateral or bilateral ovarian tumors
increased ovarian carcinoma incidence ( J:128934 )
• over 70% of female mice have metastic ovarian cancer by 1 year of age
increased testis tumor incidence ( J:128934 )
• 100% of male mice by 7 months of age exhibit tumors in the testis
• early stage tumors appear to be sex cord stromal tumors with Sertoli and Leydig cell differentiation

cardiovascular system
hemoperitoneum ( J:128934 )
• found in 50% of female mice over 9 months in age
• found in about 60% of male mice by 11 months in age

endocrine/exocrine glands
increased ovary tumor incidence ( J:128934 )
• after 3 months of age, 100% of female mice have unilateral or bilateral ovarian tumors
increased ovarian carcinoma incidence ( J:128934 )
• over 70% of female mice have metastic ovarian cancer by 1 year of age
increased testis tumor incidence ( J:128934 )
• 100% of male mice by 7 months of age exhibit tumors in the testis
• early stage tumors appear to be sex cord stromal tumors with Sertoli and Leydig cell differentiation




Genotype
MGI:4437296
cn2
Allelic
Composition		 Amhr2tm3(cre)Bhr/Amhr2+
Smad1tm2Rob/Smad1tm2.1Rob
Smad5tm1Huy/Smad5tm1Huy
Genetic
Background		 involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amhr2tm3(cre)Bhr mutation (1 available); any Amhr2 mutation (29 available)
Smad1tm2.1Rob mutation (0 available); any Smad1 mutation (32 available)
Smad1tm2Rob mutation (1 available); any Smad1 mutation (32 available)
Smad5tm1Huy mutation (0 available); any Smad5 mutation (23 available)
♀ 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

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




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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