Phenotypes associated with this allele

• Allele Symbol: Rspo1^tm1Mcch
• Allele Name: targeted mutation 1, Marie-Christine Chaboissier
• Allele ID: MGI:3784976
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rspo1^tm1Mcch/Rspo1^tm1Mcch	involves: 129 * C57BL/6J	MGI:3795283
hm2	Rspo1^tm1Mcch/Rspo1^tm1Mcch	involves: 129/Sv * C57BL/6J	MGI:5545923
cn3	Ctnnb1^tm1Mmt/Ctnnb1^+ Rspo1^tm1Mcch/Rspo1^tm1Mcch Tg(Nr5a1-cre)5Asc/?	involves: 129/Sv * C57BL/6 * CBA	MGI:3795284

Genotype
MGI:3795283

hm1

• Allelic Composition: Rspo1^tm1Mcch/Rspo1^tm1Mcch
• Genetic Background: involves: 129 * C57BL/6J

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

reproductive system

abnormal female meiosis ( J:133933 )

♀ • most female germ cells fail to enter meiosis at E13.5

abnormal ovary development ( J:133933 )

♀ • a coelomic blood vessel normally associated with testis development is first observed in E12.5 females and is prominent by E13.5

♀ • sex cord-like structures containing gonocytes can be observed in the ovaries at E18.5 with a few gonocytes being observed outside of the cord structures

♀ • at three weeks of age sex cords similar to seminiferous tubes can be observed along with healthy maturing follicles

♀ • within these tubules, cells are observed that resemble Sertoli cells in their morphological characteristics and molecular markers

♀ • by 7 weeks of age there are areas in the ovary that lack follicles

♀ • steriodogenic and endothelial cells show ectopic migration into the gonads

pseudohermaphroditism ( J:133933 )

• in 10 week old adult mice, highly coiled ductal structures resembling the male epididymis are associated with the oviduct in female mice

• vas deferens-like are associated with the uterus

• structures resembling seminal vesicles and prostrate tissue are found by the vagina

• the female gonads resemble small testis with seminiferous tubules and Sertoli and Leydig cells

• external genitalia are masculinized with an increased distance from vagina to anus

endocrine/exocrine glands

abnormal ovary development ( J:133933 )

♀ • a coelomic blood vessel normally associated with testis development is first observed in E12.5 females and is prominent by E13.5

♀ • sex cord-like structures containing gonocytes can be observed in the ovaries at E18.5 with a few gonocytes being observed outside of the cord structures

♀ • at three weeks of age sex cords similar to seminiferous tubes can be observed along with healthy maturing follicles

♀ • within these tubules, cells are observed that resemble Sertoli cells in their morphological characteristics and molecular markers

♀ • by 7 weeks of age there are areas in the ovary that lack follicles

♀ • steriodogenic and endothelial cells show ectopic migration into the gonads

cellular

abnormal female meiosis ( J:133933 )

♀ • most female germ cells fail to enter meiosis at E13.5

Genotype
MGI:5545923

hm2

• Allelic Composition: Rspo1^tm1Mcch/Rspo1^tm1Mcch
• Genetic Background: involves: 129/Sv * C57BL/6J

reproductive system

abnormal germ cell morphology ( J:203797 )

• ovaries at E17.5 contain higher numbers of germ cells compared to Wnt4-null ovaries; numbers are similar to those in Bax-rescued Wnt4 mutants

abnormal oogenesis ( J:203797 )

• ovaries have a much larger number of Amh-expressing cells than controls, similar to Wnt4-null ovaries

• in P14 animals, few Foxl2-positive clusters detected; Sox9/Amh-expressing cells are present throughout the ovary

• embryo exposure to bisulfan at E11.5 resulted in reduction of germ cell numbers by E17.5 and prevents aberrant differentiation of pregranulosa cells supporting that this is dependent on the presence of germ cells

decreased oocyte number ( J:203797 )

• embryo exposure to bisulfan at E11.5 resulted in reduction of germ cell numbers by E17.5

decreased primordial ovarian follicle number ( J:203797 )

• in P14 animals, few follicles are present with few Foxl2-positive clusters detected; Sox9/Amh-expressing cells are present throughout the ovary

endocrine/exocrine glands

decreased primordial ovarian follicle number ( J:203797 )

• in P14 animals, few follicles are present with few Foxl2-positive clusters detected; Sox9/Amh-expressing cells are present throughout the ovary

cellular

abnormal germ cell morphology ( J:203797 )

• ovaries at E17.5 contain higher numbers of germ cells compared to Wnt4-null ovaries; numbers are similar to those in Bax-rescued Wnt4 mutants

abnormal oogenesis ( J:203797 )

• ovaries have a much larger number of Amh-expressing cells than controls, similar to Wnt4-null ovaries

• in P14 animals, few Foxl2-positive clusters detected; Sox9/Amh-expressing cells are present throughout the ovary

• embryo exposure to bisulfan at E11.5 resulted in reduction of germ cell numbers by E17.5 and prevents aberrant differentiation of pregranulosa cells supporting that this is dependent on the presence of germ cells

decreased oocyte number ( J:203797 )

• embryo exposure to bisulfan at E11.5 resulted in reduction of germ cell numbers by E17.5

Genotype
MGI:3795284

cn3

• Allelic Composition: Ctnnb1^tm1Mmt/Ctnnb1⁺; Rspo1^tm1Mcch/Rspo1^tm1Mcch; Tg(Nr5a1-cre)5Asc/?
• Genetic Background: involves: 129/Sv * C57BL/6 * CBA

mortality/aging

embryonic lethality, incomplete penetrance ( J:133933 )

• majority of embryos die during early embryonic development due to extensive Beta-catenin activation

reproductive system

reproductive system phenotype ( J:133933 )

N • female mice that survive to birth have a normal reproductive system without the masculinazation of genitalia normally associated with Rspo1 null mice