Phenotypes associated with this allele

• Allele Symbol: Rnf111^em2Fzh
• Allele Name: endonuclease-mediated mutation 2, Feng Zhang
• Allele ID: MGI:7865129
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	\Rnf111^em2Fzh/\Rnf111^em2Fzh	C57BL/6J-Rnf111^em2Fzh	MGI:7865384
ht2	\Rnf111^em2Fzh/\Rnf111^+	C57BL/6J-Rnf111^em2Fzh	MGI:7865385

Genotype
MGI:7865384

hm1

• Allelic Composition: \Rnf111^em2Fzh/\Rnf111^em2Fzh
• Genetic Background: C57BL/6J-Rnf111^em2Fzh

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

mortality/aging

embryonic lethality prior to organogenesis, complete penetrance ( J:361059 )

• embryonic lethality at E9.5

growth/size/body

decreased embryo size ( J:361059 )

• abnormally small or shrunken embryos at E9.5

embryo

decreased embryo size ( J:361059 )

• abnormally small or shrunken embryos at E9.5

abnormal embryonic tissue morphology ( J:361059 )

• E9.5 embryos exhibit head truncation and aplasia of multiple organs

Genotype
MGI:7865385

ht2

• Allelic Composition: \Rnf111^em2Fzh/\Rnf111⁺
• Genetic Background: C57BL/6J-Rnf111^em2Fzh

reproductive system

abnormal oocyte morphology ( J:361059 )

♀ • dysregulation of Gdf9 and Bmpr2 in ovulated oocytes indicates that oocytes may be poor quality

decreased oocyte number ( J:361059 )

♀ • the initial ovarian reserve in resting primordial follicles in P1 mice is decreased

decreased primary ovarian follicle number ( J:361059 )

♀ • the number of growing follicles (primary and secondary follicles) is reduced at 3 months of age

♀ • however, follicles are normal at all stages, from primordial to antral follicles

decreased primordial ovarian follicle number ( J:361059 )

♀ • the number of primordial follicles is decreased starting at 2 months of age

decreased secondary ovarian follicle number ( J:361059 )

♀ • the number of growing follicles (primary and secondary follicles) is reduced at 3 months of age

decreased superovulation rate ( J:361059 )

♀ • superovulation experiments show reduced number of oocytes per female, indicating compromised ability in ovulation

reduced female fertility ( J:361059 )

♀ • females exhibit impaired fertility, with females producomg fewer pups during the entire mating period, with an average of 15.4 pups compared to 38 pups in wild-type females

♀ • females exhibit longer litter intervals, with the average litter interval of 34.6 days compared to 26.9 days in wild-type females

♀ • however, age at first birth is similar to wild-type

decreased litter size ( J:361059 )

♀ • number of pups per litter is decreased, with an average of 4.3 pups compared to 7.1 pups in wild-type females

endocrine/exocrine glands

decreased primary ovarian follicle number ( J:361059 )

♀ • the number of growing follicles (primary and secondary follicles) is reduced at 3 months of age

♀ • however, follicles are normal at all stages, from primordial to antral follicles

decreased primordial ovarian follicle number ( J:361059 )

♀ • the number of primordial follicles is decreased starting at 2 months of age

decreased secondary ovarian follicle number ( J:361059 )

♀ • the number of growing follicles (primary and secondary follicles) is reduced at 3 months of age

cellular

abnormal oocyte morphology ( J:361059 )

♀ • dysregulation of Gdf9 and Bmpr2 in ovulated oocytes indicates that oocytes may be poor quality

decreased oocyte number ( J:361059 )

♀ • the initial ovarian reserve in resting primordial follicles in P1 mice is decreased

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ovarian insufficiency		DOID:5426	OMIM:PS311360	J:361059