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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Snrpntm1Kaj
targeted mutation 1, Karen A Johnstone
MGI:3617823
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Snrpntm1Kaj/Snrpn+ either: 129S1-Snrpntm1Kaj or (involves: 129S1/Sv * C57BL/6J) MGI:3618137
ht2
Snrpntm2Cbr/Snrpntm1Kaj involves: 129S1/Sv * C57BL/6 MGI:3618140


Genotype
MGI:3618137
ht1
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 (7 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 (J:105412)
• Background Sensitivity: in the second generation of crosses to C57BL/6J 47% of heterozygotes with a paternally inherited allele died (J:105412)
• Background Sensitivity: lethality was reduced to 16% in crosses to 129S1/Sv (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 (J:105412)
• Background Sensitivity: in the second generation of crosses to C57BL/6J 47% of heterozygotes with a paternally inherited allele died (J:105412)
• Background Sensitivity: lethality was reduced to 16% in crosses to 129S1/Sv (J:105412)

growth/size/body
• in heterozygotes with a maternally inherited allele increased weight is partially the result of increased visceral fat deposition (J:105412)
• in heterozygotes with a maternally inherited allele increased weight is partially the result of increased visceral fat deposition (J:105412)
• by 3 weeks of age heterozygotes with a paternally inherited allele average 54% of the weight of wild-type littermates (J:105412)
• by 3 weeks of age heterozygotes with a paternally inherited allele average 54% of the weight of wild-type littermates (J:105412)
• at weaning heterozygotes with a maternally inherited allele are larger than wild-type littermates (J:105412)
• at weaning heterozygotes with a maternally inherited allele are larger than wild-type littermates (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 (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 (J:105412)
• seen in heterozygotes with a paternally inherited allele that survive past 2 days (J:105412)
• seen in heterozygotes with a paternally inherited allele that survive past 2 days (J:105412)

adipose tissue
• in heterozygotes with a maternally inherited allele increased weight is partially the result of increased visceral fat deposition (J:105412)
• in heterozygotes with a maternally inherited allele increased weight is partially the result of increased visceral fat deposition (J:105412)

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 (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 (J:105412)

reproductive system
N
• surviving heterozygotes with a paternally inherited allele are fertile (J:105412)
• 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 (J:105412)
• the knocked in human imprinting center is unmethylated when maternally inherited unlike the wild-type mouse imprinting center (J:105412)

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




Genotype
MGI:3618140
ht2
Allelic
Composition
Snrpntm2Cbr/Snrpntm1Kaj
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpntm1Kaj mutation (0 available); any Snrpn mutation (7 available)
Snrpntm2Cbr mutation (1 available); any Snrpn mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 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 (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 (J:105412)

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 (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 (J:105412)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory