Analysis Tools|
Allele Symbol Allele Name Allele ID |
Snrpntm2Cbr targeted mutation 2, Camilynn I Brannan MGI:2155245 |
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| Summary |
4 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• as adults surviving pups are significantly smaller than wild-type littermates and never become obese
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| N |
• survivng heterozygotes are fertile
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 72% of heterozygotes die within 48 hours of birth with none surviving past 7 days of age
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• less than 5% of mice heterozygous for the paternally inherited deletion allele alone survive to weaning
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• heterozygotes are capable of suckling but consistently have less milk in their stomachs compared to wild-type littermates
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• heterozygotes are unable to support themselves on their hind feet and instead rest on their knees
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• on the day of birth heterozygotes appear normal but weigh about 20% less than wild-type littermates
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• mice that survive past 2 days fail to maintain normal growth rates
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• mice that survive past 2 days appear dehydrated
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| N |
• no genital or gonadal hypoplasia is seen at birth
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• in J:47318 all heterozygotes carry a paternally inherited mutant allele
(J:47318)
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Prader-Willi syndrome | DOID:11983 |
OMIM:176270 |
J:47318 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• 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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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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last database update 11/12/2024 MGI 6.24 |
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