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Phenotypes Associated with This Genotype
Genotype
MGI:3618137
Allelic
Composition
Snrpntm1Kaj/Snrpn+
Genetic
Background
either: 129S1-Snrpntm1Kaj or (involves: 129S1/Sv * C57BL/6J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpntm1Kaj mutation (0 available); any Snrpn mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• by 3 weeks of age heterozygotes with a paternally inherited allele average 54% of the weight of wild-type littermates
• at weaning heterozygotes with a maternally inherited allele are larger than wild-type littermates
• 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
• seen in heterozygotes with a paternally inherited allele that survive past 2 days

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

behavior/neurological
• 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
N
• surviving heterozygotes with a paternally inherited allele are fertile

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

Mouse Models of Human Disease
OMIM ID Ref(s)
Angelman Syndrome; AS 105830 J:105412
Prader-Willi Syndrome; PWS 176270 J:105412


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory