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Phenotypes Associated with This Genotype
Genotype
MGI:3694360
Allelic
Composition
Ube3atm1Alb/Ube3atm1Alb
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ube3atm1Alb mutation (2 available); any Ube3a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: slight reduction in survival prior to weaning compared to wild-type

behavior/neurological
• Background Sensitivity: observed in 20-30% of mice with maternal deficiency

nervous system
• Background Sensitivity: observed in 20-30% of mice with maternal deficiency

reproductive system
• oocyte numbers are~68% less in 3 week old homozygous females treated with PMSG and hCG
• epididymal sperm counts are ~38% lower than in wild-type males
• mammary gland development in ovarectomized females treated with progesterone and estradiol to mimic pregnance was comparable to wild-type at 12 and 14 weeks
• some females show increased ductal branching and lobuloalveolar development compared to wild-type controls, but penetrance of this phenotype is not consistent
• prostate gland weight is lower in castrated mutants treated with testosterone, compared to control castrated males treated with testosterone
• ovaries from 3-week old females treated with PMSG and hCG have fewer developing follicles
• at 8-10 weeks of age, ovaries weigh ~30% less than wild-type ovaries; at later time points, difference is not observed
• in 12 week old mice, testis weight is reduced by ~24% compared to wild-type
• uterine wet weight is ~35% lower in mutant ovarectomized females after estradiol treament compared to matched controls
• sperm has lower ability to penetrate oocytes in vitro compared to controls
• ovaries from 3-week old females treated with PMSG and hCG are relatively deficient in luteinized cells
• female are subfertile
• litters sired by homozygous males with wild-type females have ~34% fewer pups/litter
• litter size is ~48% lower in homozygous females compared to wild-type
• total number of offspring sired by homozygous males with wild-type females is reduced compared to wild-type males

endocrine/exocrine glands
• mammary gland development in ovarectomized females treated with progesterone and estradiol to mimic pregnance was comparable to wild-type at 12 and 14 weeks
• some females show increased ductal branching and lobuloalveolar development compared to wild-type controls, but penetrance of this phenotype is not consistent
• prostate gland weight is lower in castrated mutants treated with testosterone, compared to control castrated males treated with testosterone
• ovaries from 3-week old females treated with PMSG and hCG have fewer developing follicles
• at 8-10 weeks of age, ovaries weigh ~30% less than wild-type ovaries; at later time points, difference is not observed
• in 12 week old mice, testis weight is reduced by ~24% compared to wild-type

integument
• mammary gland development in ovarectomized females treated with progesterone and estradiol to mimic pregnance was comparable to wild-type at 12 and 14 weeks
• some females show increased ductal branching and lobuloalveolar development compared to wild-type controls, but penetrance of this phenotype is not consistent

cellular
• oocyte numbers are~68% less in 3 week old homozygous females treated with PMSG and hCG
• epididymal sperm counts are ~38% lower than in wild-type males


Contributing Projects:
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
04/09/2024
MGI 6.23
The Jackson Laboratory