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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ubbtm1Rrk
targeted mutation 1, Ron R Kopito
MGI:3774112
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ubbtm1Rrk/Ubbtm1Rrk involves: 129S1/Sv * 129X1/SvJ MGI:5897220
hm2
Ubbtm1Rrk/Ubbtm1Rrk involves: 129S1/Sv * 129X1/SvJ * C57BL/6 MGI:3777944


Genotype
MGI:5897220
hm1
Allelic
Composition
Ubbtm1Rrk/Ubbtm1Rrk
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ubbtm1Rrk mutation (1 available); any Ubb mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• progressive with age; fewer rhodopsin-expressing cells are seen by 3-4 months of age
• progressive with age; reduced ONL thickness was evident in 1 month old adult homozygous mutant mice and a greater reduction in ONL thickness was seen in older 3-4 month old adult mutant mice

nervous system
• progressive with age; fewer rhodopsin-expressing cells are seen by 3-4 months of age




Genotype
MGI:3777944
hm2
Allelic
Composition
Ubbtm1Rrk/Ubbtm1Rrk
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ubbtm1Rrk mutation (1 available); any Ubb mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Adult-onset degeneration of hypothalamic neurons in Ubbtm1Rrk/Ubbtm1Rrk mice

reproductive system
• few corpora lutea are seen at 2 and 5 months of age
• ovaries of 2 and 5 month old females contain few mature follicles
• following treatment with PMSG, females form normal antral follicles in which oocytes contain a normal-appearing germinal vesicle, however the size of the antral follicles is smaller
• ovarian size is significantly reduced at 5 months of age
• 5 month old ovaries weigh on average 2-3 times less than control ovaries
• seminiferous tubules are smaller by 19 days of age and by 40 days, the lumen of the seminiferous tubules is absent
• testes fail to increase in size with age, such that at 5 months of age, testes are significantly smaller than in wild-type and by 8.5 months, testes are severely atrophic
• however, Leydig cell function appears normal
• by 8.5 months, testes are severely atrophic
• progressive testes degeneration
• increase in apoptosis in oocytes due to meiotic arrest
• fetal ovaries have fewer oocytes and elevated apoptotic nuclei
• oocytes from superovulated females have a thin zona pellucida that is tightly adherent to the plasma membrane
• germ cells fail to progress beyond the early pachytene spermatocyte stage of meiosis and undergo cell death, such that by by 8.5 months of age, no germ cells are present
• oocytes exhibit a heteromorphic meiotic arrest but do not proceed beyond metaphase I
• nuclear envelope dissolution is delayed and is observed in fewer than 70% of oocytes, indicating that oocytes cannot exit meiotic prophase and that those that exit prophase cannot complete meiosis I
• chromosomes from oocytes only rarely align on a normal-looking spindle, indicating that oocytes cannot get through the prophase-to-metaphase transition
• spermatogenesis is arrested in prophase of meiosis I, before metaphase of the first meiotic division
• females superovulated with follicle-stimulating hormone and luteinizing hormone rarely ovulate any oocytes

growth/size/body
• mutants exhibit adult-onset obesity
• newborns are smaller, however by 16 weeks of age, body weights are similar to wild-type
• mutants exhibit a subtle linear growth retardation after birth

adipose tissue
• body fat content is elevated in adults and is associated with reduced lean body mass and a corresponding increase in fat mass and not due to an increase in total body mass

behavior/neurological
• the compensatory hyperphagia that is seen in wild-type mice after food deprivation is substantially blunted in adult mutants

homeostasis/metabolism
• serum leptin levels are elevated in adults, even after food deprivation
• however, blood glucose and serum insulin levels are normal in adult obese mutants
• the compensatory hyperphagia that is seen in wild-type mice after food deprivation is substantially blunted in adult mutants and they show impaired body weight recovery after fasting

nervous system
• total neuron counts in the arcuate nucleus of the hypothalamus are reduced by about 30% in 3-month old mutants
• progressive neuron degeneration in the arcuate nucleus of the hypothalamus

cellular
• increase in apoptosis in oocytes due to meiotic arrest
• fetal ovaries have fewer oocytes and elevated apoptotic nuclei
• oocytes from superovulated females have a thin zona pellucida that is tightly adherent to the plasma membrane
• germ cells fail to progress beyond the early pachytene spermatocyte stage of meiosis and undergo cell death, such that by by 8.5 months of age, no germ cells are present
• oocytes exhibit a heteromorphic meiotic arrest but do not proceed beyond metaphase I
• nuclear envelope dissolution is delayed and is observed in fewer than 70% of oocytes, indicating that oocytes cannot exit meiotic prophase and that those that exit prophase cannot complete meiosis I
• chromosomes from oocytes only rarely align on a normal-looking spindle, indicating that oocytes cannot get through the prophase-to-metaphase transition
• spermatogenesis is arrested in prophase of meiosis I, before metaphase of the first meiotic division

endocrine/exocrine glands
• few corpora lutea are seen at 2 and 5 months of age
• ovaries of 2 and 5 month old females contain few mature follicles
• following treatment with PMSG, females form normal antral follicles in which oocytes contain a normal-appearing germinal vesicle, however the size of the antral follicles is smaller
• ovarian size is significantly reduced at 5 months of age
• 5 month old ovaries weigh on average 2-3 times less than control ovaries
• seminiferous tubules are smaller by 19 days of age and by 40 days, the lumen of the seminiferous tubules is absent
• testes fail to increase in size with age, such that at 5 months of age, testes are significantly smaller than in wild-type and by 8.5 months, testes are severely atrophic
• however, Leydig cell function appears normal
• by 8.5 months, testes are severely atrophic
• progressive testes degeneration





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory