Phenotypes Associated with This Genotype

Genotype
MGI:3834842

• Allelic Composition: Magel2^tm1Stw/Magel2⁺
• Genetic Background: C57BL/6-Magel2^tm1Stw

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

Older Magel2^tm1Stw/Magel2⁺ females that inherit the mutant allele paternally lack corpora lutea in the ovaries

mortality/aging

postnatal lethality, incomplete penetrance ( J:144836 )

• only 50-60% of pups born to female mice that inherit the mutant allele paternally survive until weaning

early reproductive senescence ( J:144836 )

• infertility occurs in both sexes by 24 weeks of age in mice that inherit the mutant allele paternally

• fertility rates are normal between 7-14 weeks of age, drops to about 20% at 19-24 weeks of age, with no litters are born after 24 weeks of age

• at younger ages, there is also a significant increase in the mean time between pairing and successful breeding (males: 9 days vs. 4 days for controls, females: 12 days vs. 4 days in controls)

cellular

maternal imprinting ( J:144836 )

• only the paternally inherited allele is expressed

reproductive system

abnormal corpus luteum morphology ( J:144836 )

♀ • an absence of corpus lutea is noted in 10 of 14 female mice that are over 24 weeks of age and have inherited the mutant allele paternally

early reproductive senescence ( J:144836 )

• infertility occurs in both sexes by 24 weeks of age in mice that inherit the mutant allele paternally

• fertility rates are normal between 7-14 weeks of age, drops to about 20% at 19-24 weeks of age, with no litters are born after 24 weeks of age

• at younger ages, there is also a significant increase in the mean time between pairing and successful breeding (males: 9 days vs. 4 days for controls, females: 12 days vs. 4 days in controls)

delayed vaginal opening ( J:144836 )

• in female mice inheriting the mutant allele paternally, vaginal opening is significantly delayed by 1.4 days

delayed estrous cycle ( J:144836 )

• in female mice inheriting the mutant allele paternally, the age of first estrus is delayed by 5.3 days

abnormal proestrus ( J:144836 )

♀ • only 25% of mice experience proestrus in female mice that are 26 weeks of age and have inherited the mutant allele paternally

prolonged estrous cycle ( J:144836 )

♀ • estrous cycle is prolonged and irregular in female mice that have inherited the mutant allele paternally

decreased litter size ( J:144836 )

• a mean of 6.4 pups is born to female mice that inherit the mutant allele paternally compared to 7.8 pups for controls

taste/olfaction

impaired olfaction ( J:144836 )

• latency time to find buried food is more than twice that of controls for mice that are over 24 weeks of age and have inherited the mutant allele paternally

• fasted male mice that have inherited the mutant allele paternally only investigate a dried vanilla spot for 0.75 s compared to 6.7 s for controls

• sexually-experienced male mice that have inherited the mutant allele paternally show no preference for female soiled bedding unlike their wild-type controls

behavior/neurological

pup cannibalization ( J:144836 )

♀ • female mice with paternal inheritance of the mutant allele frequently cannibalize their pups

endocrine/exocrine glands

abnormal corpus luteum morphology ( J:144836 )

♀ • an absence of corpus lutea is noted in 10 of 14 female mice that are over 24 weeks of age and have inherited the mutant allele paternally

homeostasis/metabolism

decreased circulating testosterone level ( J:144836 )

• mean serum testosterone levels are significantly lower in male mice that inherit the mutant allele paternally (6.1 ng/ml versus 20.2 ng/ml in controls)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:144836