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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Snrpntm2Cbr
targeted mutation 2, Camilynn I Brannan
MGI:2155245
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Snrpntm2Cbr/Snrpn+ either: B6.Cg-Snrpntm2Cbr or (involves: 129S1/Sv * C57BL/6J * DBA/2J) MGI:3618143
ht2
Snrpntm2Cbr/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
ht3
Snrpntm2Cbr/Snrpn+ involves: 129S1/Sv * C57BL/6 MGI:3618139
ht4
Snrpntm2Cbr/Snrpntm1Rsnk involves: 129S1/Sv * C57BL/6 MGI:3618140


Genotype
MGI:3618143
ht1
Allelic
Composition
Snrpntm2Cbr/Snrpn+
Genetic
Background
either: B6.Cg-Snrpntm2Cbr or (involves: 129S1/Sv * C57BL/6J * DBA/2J)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpntm2Cbr mutation (1 available); any Snrpn mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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




Genotype
MGI:3618142
ht2
Allelic
Composition
Snrpntm2Cbr/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:
Snrpntm2Cbr mutation (1 available); any Snrpn mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• as adults surviving pups are significantly smaller than wild-type littermates and never become obese

reproductive system
N
• survivng heterozygotes are fertile

cellular




Genotype
MGI:3618139
ht3
Allelic
Composition
Snrpntm2Cbr/Snrpn+
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpntm2Cbr mutation (1 available); any Snrpn mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 72% of heterozygotes die within 48 hours of birth with none surviving past 7 days of age
• less than 5% of mice heterozygous for the paternally inherited deletion allele alone survive to weaning

behavior/neurological
• heterozygotes are capable of suckling but consistently have less milk in their stomachs compared to wild-type littermates
• mice that survive past 2 days display weakness
• heterozygotes are unable to support themselves on their hind feet and instead rest on their knees

growth/size/body
• on the day of birth heterozygotes appear normal but weigh about 20% less than wild-type littermates
• mice that survive past 2 days fail to maintain normal growth rates

homeostasis/metabolism
• mice that survive past 2 days appear dehydrated

reproductive system
N
• no genital or gonadal hypoplasia is seen at birth

cellular
• 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




Genotype
MGI:3618140
ht4
Allelic
Composition
Snrpntm2Cbr/Snrpntm1Rsnk
Genetic
Background
involves: 129S1/Sv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snrpntm1Rsnk mutation (0 available); any Snrpn mutation (23 available)
Snrpntm2Cbr mutation (1 available); any Snrpn mutation (23 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

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





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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory