Mouse Genome Informatics
ht1
    Snrpntm1Kaj/Snrpn+
either: 129S1-Snrpntm1Kaj or (involves: 129S1/Sv * C57BL/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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
• in heterozygotes with a maternally inherited allele increased weight is partially the result of increased visceral fat deposition
• 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 (J:105412)

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 IDRef(s)
Angelman Syndrome; AS 105830 J:105412
Prader-Willi Syndrome; PWS 176270 J:105412


Mouse Genome Informatics
ht2
    Snrpntm2Cbr/Snrpntm1Kaj
involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
growth/size
• 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
• 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