Phenotypes associated with this allele

• Allele Symbol: Exosc10^{tm1c(KOMP)Wtsi}
• Allele Name: targeted mutation 1c, Wellcome Trust Sanger Institute
• Allele ID: MGI:6110581
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Exosc10^tm1a(KOMP)Wtsi/Exosc10^tm1c(KOMP)Wtsi Tg(Gdf9-icre)5092Coo/0	involves: C57BL/6 * C57BL/6N	MGI:8238968

Genotype
MGI:8238968

cn1

• Allelic Composition: Exosc10^{tm1a(KOMP)Wtsi}/Exosc10^{tm1c(KOMP)Wtsi}; Tg(Gdf9-icre)5092Coo/0
• Genetic Background: involves: C57BL/6 * C57BL/6N

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:369950 )

• fewer than the expected number of mice (13.9% compared to the expected 25%) are obtained, most likely due to leaky cre recombinase expression

reproductive system

abnormal polar body morphology ( J:369950 )

• 35% of oocytes collected at gestational day 1 exhibit an enlarged polar body, suggesting that the first meiotic division is altered

• oocytes obtained after superovulation lack polar bodies or exhibit degenerated polar bodies

oocyte degeneration ( J:369950 )

• by 8 weeks of age, ovaries are completely devoid of oocytes and corpora lutea and contain oocyte-depleted follicles and vacuoles containing degenerated oocytes

abnormal oogenesis ( J:369950 )

♀ • oogenesis is impaired in 8-week-old mice; ovulated oocytes appear of poor quality and fertilized oocytes are unable to develop into an embryo, suggesting that maturation of oocytes is impaired

abnormal oocyte morphology ( J:369950 )

• oocytes obtained after superovulation exhibit DNA that appears fragmented

decreased oocyte number ( J:369950 )

• the number of oocytes collected after superovulation reaches only 1/3 that of oocytes collected from controls, reflecting depletion of follicles in ovaries

abnormal ovary morphology ( J:369950 )

♀ • ovaries appear normal at 3 weeks of age but by 8 weeks, ovaries have a smooth and juvenile appearance

♀ • 8-week-old ovaries are made up of only few primordial and primary follicles

absent corpus luteum ( J:369950 )

♀ • corpus lutea are absent in 8-week-old mice

decreased primordial ovarian follicle number ( J:369950 )

♀ • at 6 and 8 weeks of age, ovaries have fewer primordial follicles

absent secondary ovarian follicles ( J:369950 )

♀ • no secondary follicles are seen at 8 weeks of age

increased secondary ovarian follicle number ( J:369950 )

♀ • at 6 weeks of age, ovaries have more secondary follicles

absent tertiary ovarian follicles ( J:369950 )

♀ • no antral follicles are seen at 8 weeks of age

increased atretic ovarian follicle number ( J:369950 )

♀ • at 8 weeks of age, ovaries show presence of atretic oocytes

impaired ovarian folliculogenesis ( J:369950 )

♀ • marker analysis indicates that folliculogenesis is perturbed or arrested at the secondary stage and 8-week-old ovaries are made up of only few primordial and primary follicles

small ovary ( J:369950 )

♀ • ovaries are smaller at 6 months of age

ovary cyst ( J:369950 )

♀ • ovaries at 6 months of age contain cyst-like structures and the stroma compartment is composed of an undetermined somatic cell type

abnormal estrous cycle ( J:369950 )

♀ • while mice show normal onset of puberty and normal estrus cycles are seen until 8-10 weeks of age, after this time the estrus cycle becomes irregular with prolonged metestrus-like phases containing abundant clustered cornified cells, leukocytes, and mucus

prolonged metestrus ( J:369950 )

♀ • estrus cycle shows prolonged metestrus-like phases after 8-10 weeks of age

female infertility ( J:369950 )

♀ • females mated with wild-type males have few plugs before the age of 12 weeks and no pups over a 6-month period

cellular

abnormal polar body morphology ( J:369950 )

• 35% of oocytes collected at gestational day 1 exhibit an enlarged polar body, suggesting that the first meiotic division is altered

• oocytes obtained after superovulation lack polar bodies or exhibit degenerated polar bodies

oocyte degeneration ( J:369950 )

• by 8 weeks of age, ovaries are completely devoid of oocytes and corpora lutea and contain oocyte-depleted follicles and vacuoles containing degenerated oocytes

abnormal oogenesis ( J:369950 )

♀ • oogenesis is impaired in 8-week-old mice; ovulated oocytes appear of poor quality and fertilized oocytes are unable to develop into an embryo, suggesting that maturation of oocytes is impaired

abnormal oocyte morphology ( J:369950 )

• oocytes obtained after superovulation exhibit DNA that appears fragmented

decreased oocyte number ( J:369950 )

• the number of oocytes collected after superovulation reaches only 1/3 that of oocytes collected from controls, reflecting depletion of follicles in ovaries

embryo

embryonic growth arrest ( J:369950 )

• impaired oocyte development and maturation resulting in embryonic development arrest

endocrine/exocrine glands

abnormal ovary morphology ( J:369950 )

♀ • ovaries appear normal at 3 weeks of age but by 8 weeks, ovaries have a smooth and juvenile appearance

♀ • 8-week-old ovaries are made up of only few primordial and primary follicles

absent corpus luteum ( J:369950 )

♀ • corpus lutea are absent in 8-week-old mice

decreased primordial ovarian follicle number ( J:369950 )

♀ • at 6 and 8 weeks of age, ovaries have fewer primordial follicles

absent secondary ovarian follicles ( J:369950 )

♀ • no secondary follicles are seen at 8 weeks of age

increased secondary ovarian follicle number ( J:369950 )

♀ • at 6 weeks of age, ovaries have more secondary follicles

absent tertiary ovarian follicles ( J:369950 )

♀ • no antral follicles are seen at 8 weeks of age

increased atretic ovarian follicle number ( J:369950 )

♀ • at 8 weeks of age, ovaries show presence of atretic oocytes

impaired ovarian folliculogenesis ( J:369950 )

♀ • marker analysis indicates that folliculogenesis is perturbed or arrested at the secondary stage and 8-week-old ovaries are made up of only few primordial and primary follicles

small ovary ( J:369950 )

♀ • ovaries are smaller at 6 months of age

ovary cyst ( J:369950 )

♀ • ovaries at 6 months of age contain cyst-like structures and the stroma compartment is composed of an undetermined somatic cell type

growth/size/body

ovary cyst ( J:369950 )

♀ • ovaries at 6 months of age contain cyst-like structures and the stroma compartment is composed of an undetermined somatic cell type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ovarian insufficiency		DOID:5426	OMIM:PS311360	J:369950