Phenotypes associated with this allele

• Allele Symbol: Polr3h^em2Cfe
• Allele Name: endonuclease-mediated mutation 2, Carol F Elias
• Allele ID: MGI:6696392
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Polr3h^em2Cfe/Polr3h^em2Cfe	involves: C57BL/6J * SJL/J	MGI:6696394

Genotype
MGI:6696394

hm1

• Allelic Composition: Polr3h^em2Cfe/Polr3h^em2Cfe
• Genetic Background: involves: C57BL/6J * SJL/J

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

reproductive system

decreased primary ovarian follicle number ( J:290735 )

♀ • decrease in the average number of primary follicles per section

decreased tertiary ovarian follicle number ( J:290735 )

♀ • decrease in the average number of antral follicles per section

delayed sexual maturation ( J:290735 )

delayed balanopreputial separation ( J:290735 )

♂

delayed estrous cycle ( J:290735 )

♀ • females show no difference from wild-type mice in the onset of puberty but puberty completion (age at first estrus) is delayed, with about 35% of females not showing vaginal cornification at P60

♀ • however, females at P80 or P120 show no differences in the mean number of estrous cycles, length of cycles, or time spent in each cycle phase

reduced fertility ( J:290735 )

• females and males show decreased fertility later in life

• 75% of males versus 100% of control males impregnate the cage mate four times in 100 days

• wild-type females bred with homozygous mutant males give birth to less than 5 pups

• the latency to impregnate a female is longer

decreased litter size ( J:290735 )

• females deliver less than 5 pups in 9 pregnancies

• litter size is lower in the 3rd and 4th pregnancies

endocrine/exocrine glands

decreased primary ovarian follicle number ( J:290735 )

♀ • decrease in the average number of primary follicles per section

decreased tertiary ovarian follicle number ( J:290735 )

♀ • decrease in the average number of antral follicles per section

growth/size/body

growth/size/body region phenotype ( J:290735 )

N • females and males exhibit normal body weight

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ovarian insufficiency		DOID:5426	OMIM:PS311360	J:290735