Phenotypes associated with this allele

• Allele Symbol: Magel2⁺
• Allele Name: wild type
• Allele ID: MGI:2438601
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Magel2^tm1.1Mus/Magel2^+	B6.129S2-Magel2^tm1.1Mus	MGI:4849515
ht2	Magel2^tm1Stw/Magel2^+	C57BL/6-Magel2^tm1Stw	MGI:3834842
ht3	Magel2^tm1.1Mus/Magel2^+	involves: 129S2/SvPas * C57BL/6J	MGI:4849514

Genotype
MGI:4849515

ht1

• Allelic Composition: Magel2^tm1.1Mus/Magel2⁺
• Genetic Background: B6.129S2-Magel2^tm1.1Mus

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:166548 )

• when this allele is inherited paternally, half of expected mice survive to P1

• however, lethality can be rescued by injection of oxytocin

behavior/neurological

absent gastric milk in neonates ( J:166548 )

• when this allele is inherited paternally

abnormal suckling behavior ( J:166548 )

• when this allele is inherited paternally, more mice exhibit weak suckling activity compared with wild-type mice

• however, suckling activity can be rescued by injection of oxytocin

nervous system

nervous system phenotype ( J:166548 )

N • brain morphology is normal

abnormal hypothalamus secretion ( J:166548 )

• when this allele is inherited paternally, hypothalamic levels of amidated neuropeptides (oxytocin, arginine-vasopressin, and orexin-A) compared with wild-type mice

• when this allele is inherited paternally, maturation of oxytocin in the hypothalamus is impaired and intermediate forms accumulate compared to in wild-type mice

• however, mice exhibit normal hypothalamic levels of adrenocorticotropic hormone and alpha-melanocyte-stimulating hormone and pituitary levels of oxytocin, arginine-vasopressin, and orexin-A

homeostasis/metabolism

decreased circulating glucose level ( J:166548 )

• 12 hours after birth when this allele is inherited paternally

growth/size/body

decreased body weight ( J:166548 )

• between P0 and P3 when this allele is inherited paternally

• however, weight between P3 and P4 is normal and only tends to be lower until weaning

Genotype
MGI:3834842

ht2

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

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

Genotype
MGI:4849514

ht3

• Allelic Composition: Magel2^tm1.1Mus/Magel2⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6J

mortality/aging

perinatal lethality, incomplete penetrance ( J:166548 )

• when this allele is inherited paternally, fewer than expected mice survive to P1