All Phenotypes Snrpn<tm2Alb> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Snrpn^tm2Alb/Snrpn⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3719120
cx2	Rr70^tm1Alb/Rr70⁺ Snrpn^tm2Alb/Snrpn⁺	involves: 129S7/SvEvBrd * C57BL/6J	MGI:3719123

♀	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	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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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