Phenotypes associated with this allele

• Allele Symbol: Snrpn^tm1Rsnk
• Allele Name: targeted mutation 1, James Resnick
• Allele ID: MGI:3617823
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Snrpn^tm1Rsnk/Snrpn^+	either: 129S1-Snrpn^tm1Rsnk or (involves: 129S1/Sv * C57BL/6J)	MGI:3618137
ht2	Snrpn^tm2Cbr/Snrpn^tm1Rsnk	involves: 129S1/Sv * C57BL/6	MGI:3618140

Genotype
MGI:3618137

ht1

• Allelic Composition: Snrpn^tm1Rsnk/Snrpn⁺
• Genetic Background: either: 129S1-Snrpn^tm1Rsnk or (involves: 129S1/Sv * C57BL/6J)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:105412 )

• Background Sensitivity: in the first generation of crosses to C57BL/6J 15% of heterozygotes with a paternally inherited allele died by P2 with a further 16% dead by P16

• Background Sensitivity: in the second generation of crosses to C57BL/6J 47% of heterozygotes with a paternally inherited allele died

• Background Sensitivity: lethality was reduced to 16% in crosses to 129S1/Sv

growth/size/body

decreased body weight ( J:105412 )

• by 3 weeks of age heterozygotes with a paternally inherited allele average 54% of the weight of wild-type littermates

increased body size ( J:105412 )

• at weaning heterozygotes with a maternally inherited allele are larger than wild-type littermates

increased body weight ( J:105412 )

• from weaning to 18 weeks of age, heterozygotes with a maternally inherited allele gain weight more rapidly and at 18 weeks of age males and females weigh 26.7 +/- 4.3% and 63.7 +/- 8.3% more than wild-type littermates, respectively

postnatal growth retardation ( J:105412 )

• seen in heterozygotes with a paternally inherited allele that survive past 2 days

adipose tissue

increased total body fat amount ( J:105412 )

• in heterozygotes with a maternally inherited allele increased weight is partially the result of increased visceral fat deposition

behavior/neurological

absent gastric milk in neonates ( J:105412 )

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

reproductive system

reproductive system phenotype ( J:105412 )

N • surviving heterozygotes with a paternally inherited allele are fertile

cellular

abnormal imprinting ( J:105412 )

• the knocked in human imprinting center is unmethylated when maternally inherited unlike the wild-type mouse imprinting center

maternal imprinting ( J:105412 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Angelman syndrome		DOID:1932	OMIM:105830	J:105412
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:105412

Genotype
MGI:3618140

ht2

• Allelic Composition: Snrpn^tm2Cbr/Snrpn^tm1Rsnk
• Genetic Background: involves: 129S1/Sv * C57BL/6

growth/size/body

postnatal growth retardation ( J:105412 )

• mice still display a growth deficiency with males and females weighing 58% and 61% that of wild-type littermates, respectively, at 3 weeks of age

cellular

maternal imprinting ( J:105412 )

• when the knockin allele is maternally inherited and the deletion allele is paternally inherited about 98% of these mice survive to weaning compared to less than 5% of mice heterozygous for the paternally inherited deletion allele alone