Phenotypes Associated with This Genotype

Genotype
MGI:3618139

• Allelic Composition: Snrpn^tm2Cbr/Snrpn⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:47318 )

• 72% of heterozygotes die within 48 hours of birth with none surviving past 7 days of age

postnatal lethality, incomplete penetrance ( J:105412 )

• less than 5% of mice heterozygous for the paternally inherited deletion allele alone survive to weaning

behavior/neurological

abnormal suckling behavior ( J:47318 )

• heterozygotes are capable of suckling but consistently have less milk in their stomachs compared to wild-type littermates

weakness ( J:105412 )

• mice that survive past 2 days display weakness

abnormal stationary movement ( J:47318 )

• heterozygotes are unable to support themselves on their hind feet and instead rest on their knees

growth/size/body

decreased birth weight ( J:47318 )

• on the day of birth heterozygotes appear normal but weigh about 20% less than wild-type littermates

postnatal growth retardation ( J:47318 )

• mice that survive past 2 days fail to maintain normal growth rates

homeostasis/metabolism

decreased circulating glucose level ( J:47318 )

dehydration ( J:47318 )

• mice that survive past 2 days appear dehydrated

reproductive system

reproductive system phenotype ( J:47318 )

N • no genital or gonadal hypoplasia is seen at birth

cellular

maternal imprinting ( J:47318 , J:105412 )

• in J:47318 all heterozygotes carry a paternally inherited mutant allele (J:47318)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:47318