All Phenotypes Snrpn<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Snrpn⁺
wild type
MGI:2156375

Summary

10 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⁺	either: B6.Cg-Snrpn^tm2Cbr or (involves: 129S1/Sv * C57BL/6J * DBA/2J)	MGI:3618143
ht3	Snrpn^tm2Cbr/Snrpn⁺	either: (involves: 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * BALB/c * C57BL/6J) or (involves: 129S1/Sv * C3H/HeJ * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J * FVB/NJ)	MGI:3618142
ht4	Snrpn^tm3Alb/Snrpn⁺	either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)	MGI:3662890
ht5	Snrpn^tm2Cbr/Snrpn⁺	involves: 129S1/Sv * C57BL/6	MGI:3618139
ht6	Snrpn^tm1Alb/Snrpn⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3719119
ht7	Snrpn^tm2Alb/Snrpn⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3719120
ht8	Snrpn^tm5Alb/Snrpn⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3719121
cn9	Snrpn^tm2.1Kaj/Snrpn⁺ Alpl^tm1(cre)Nagy/Alpl⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:5140868
cx10	Rr70^tm1Alb/Rr70⁺ Snrpn^tm2Alb/Snrpn⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3719123

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpn^tm1Rsnk mutation (0 available); any Snrpn mutation (23 available)

♀	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

Allelic Composition	Snrpn^tm2Cbr/Snrpn⁺
Genetic Background	either: B6.Cg-Snrpn^tm2Cbr or (involves: 129S1/Sv * C57BL/6J * DBA/2J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpn^tm2Cbr mutation (1 available); any Snrpn mutation (23 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:94414 )

• all pups die within 7 days of birth

• Background Sensitivity: survival is impaired compared to heterozygous pups from crosses of heterozygous males to wild-type females of the 129S1/Sv, BALB/c, C3H/HeJ, or FVB/NJ strains

cellular

maternal imprinting ( J:94414 )

Allelic Composition	Snrpn^tm2Cbr/Snrpn⁺
Genetic Background	either: (involves: 129S1/Sv * C57BL/6J) or (involves: 129S1/Sv * BALB/c * C57BL/6J) or (involves: 129S1/Sv * C3H/HeJ * C57BL/6J) or (involves: 129S1/Sv * C57BL/6J * FVB/NJ)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpn^tm2Cbr mutation (1 available); any Snrpn mutation (23 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:94414 )

• most heterozygous pups die within 14 days of birth but with removal of all but 1 wild-type littermate some survive to adulthood and are fertile

• Background Sensitivity: all heterozygous pups die within 7 days of birth when a heterozygous male on a 129S1/Sv background is crossed to a wild-type female of the C57BL/6J strain unlike the reciprocal cross where some heterozygous pups survive

• Background Sensitivity: survival is improved compared to heterozygous pups from crosses of heterozygous males (on a C57BL/6J background) to wild-type females of the C57BL/6J or DBA/2J strains

• Background Sensitivity: if the wild-type female crossed to a heterozygous male is an F1 cross of C57BL/6J and either C3H/HeJ, or FVB/NJ survival of heterozygous pups is impaired compared to crosses where the female is inbred C3H/HeJ, or FVB/NJ

growth/size/body

decreased body size ( J:94414 )

• as adults surviving pups are significantly smaller than wild-type littermates and never become obese

reproductive system

reproductive system phenotype ( J:94414 )

N	• survivng heterozygotes are fertile

cellular

maternal imprinting ( J:94414 )

Allelic Composition	Snrpn^tm3Alb/Snrpn⁺
Genetic Background	either: (involves: 129S7/SvEvBrd) or (involves: 129S7/SvEvBrd * C57BL/6J)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpn^tm3Alb mutation (0 available); any Snrpn mutation (23 available)

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

normal phenotype

no abnormal phenotype detected ( J:56617 )

• heterozygotes with either maternal or paternal deficiency appear normal and are fertile

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpn^tm2Cbr mutation (1 available); any Snrpn mutation (23 available)

♀	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

Allelic Composition	Snrpn^tm1Alb/Snrpn⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpn^tm1Alb mutation (0 available); any Snrpn mutation (23 available)

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

cellular

cellular phenotype ( J:70275 )

N	• methylation patterns associated with imprinting are normal

Allelic Composition	Snrpn^tm2Alb/Snrpn⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpn^tm2Alb mutation (0 available); any Snrpn mutation (23 available)

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

mortality/aging

postnatal lethality ( J:70275 )

• when the allele is inherited paternally 45 to 50% of mice die prior to weaning

• however, when the allele is inherited maternally the offspring exhibit no abnormal postnatal lethality

growth/size/body

decreased body weight ( J:70275 , J:105289 )

• when inherited paternally mice weigh an average of 2.18+/-0.30 g compared to wild-type mice that weigh 3.10+/-0.57 g (J:70275)

• when inherited maternally mice have normal weights (J:70275)

• when inherited paternally, all organs examined are smaller than in wild-type mice (J:70275)

• when inherited paternally, mice have decreased body weight compared to wild-type mice and Snrpn^tm2Alb/Snrpn^tm4Alb heterogyzotes (J:105289)

postnatal growth retardation ( J:70275 )

• when inherited paternally mice exhibit postnatal growth retardation

• however, when inherited maternally mice have normal growth rates

cellular

cellular phenotype ( J:70275 )

N	• methylation patterns associated with imprinting are normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:70275

Allelic Composition	Snrpn^tm5Alb/Snrpn⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpn^tm5Alb mutation (0 available); any Snrpn mutation (23 available)

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

cellular

abnormal DNA methylation ( J:105289 )

genetic imprinting ( J:105289 )

• maternal inheritance of the allele leads to an incompletely penetrant methylation defect

Allelic Composition	Snrpn^tm2.1Kaj/Snrpn⁺ Alpl^tm1(cre)Nagy/Alpl⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpl^tm1(cre)Nagy mutation (6 available); any Alpl mutation (351 available)
Snrpn^tm2.1Kaj mutation (1 available); any Snrpn mutation (23 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:174457 )

• when the floxed allele is paternally inherited, only one mouse survived beyond P2 to die at P7

• however, mice that inherit the floxed allele maternally exhibit normal survival

growth/size/body

decreased birth weight ( J:174457 )

• when the floxed allele is paternally inherited

cellular

abnormal DNA methylation ( J:174457 )

• when the floxed allele is paternally inherited, DNA methylation at Mkrn3 and Ndn is increased compared to in wild-type mice

behavior/neurological

absent gastric milk in neonates ( J:174457 )

• when the floxed allele is paternally inherited

Allelic Composition	Rr70^tm1Alb/Rr70⁺ Snrpn^tm2Alb/Snrpn⁺
Genetic Background	involves: 129S7/SvEvBrd * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rr70^tm1Alb mutation (0 available); any Rr70 mutation (0 available)
Snrpn^tm2Alb mutation (0 available); any Snrpn mutation (23 available)

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

growth/size/body

growth/size/body region phenotype ( J:105289 )

N	• mice have normal weights and growth rates even when the Snrpn^tm2Alb allele is inherited paternally

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