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Phenotypes Associated with This Genotype
Genotype
MGI:3582581
Allelic
Composition
Rb1tm1Tyj/Rb1+
Rbl1tm1Tyj/Rbl1tm1Tyj
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rb1tm1Tyj mutation (5 available); any Rb1 mutation (111 available)
Rbl1tm1Tyj mutation (1 available); any Rbl1 mutation (60 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• females displaying vaginal atresia accumulate fluid in the uterus and die between 4 and 6 months of age
• similar to Rb1tm1Tyj heterozygotes, any surviving mutant mice eventually die of pituitary tumors after 12 months
• at 1 week of age, mutant pups are obtained at a significantly lower frequency (19%) than expected (25%)
• most mutants die within the first 3 weeks of age, with only about 25% surviving beyond 3 weeks

endocrine/exocrine glands
• similar to Rb1tm1Tyj heterozygotes, all surviving mutant mice develop large pituitary adenocarcinomas of the intermediate lobe

growth/size/body
• mutant pups become runted several days after birth
• beginning at ~1 week, mutant pups appear severely growth retarded, averaging 50% of the weight of control littermates
• mutants surviving beyond 3 weeks of age gain weight slowly, averaging 70-90% of normal weight at 3 months
• although mutant pups are of approximately uniform size at birth, a number of pups display severe growth retardation, with weight differences persisting for several weeks
• females displaying vaginal atresia have a distended abdomen as a result of fluid accumulation in the uterus

neoplasm
• similar to Rb1tm1Tyj heterozygotes, all surviving mutant mice develop large pituitary adenocarcinomas of the intermediate lobe

reproductive system
• females displaying vaginal atresia have a distended perineum as a result of fluid accumulation in the uterus
• ~75% of mutant females display vaginal atresia whereas the majority of mutant males surviving beyond 3 weeks of age are fertile and appear normal up to 12 months
• in affected females, the vaginal opening is absent; however, the rest of the reproductive tract appears unaffected

vision/eye
• at 4-6 months, all mutant mice display retinal dysplasia; both eyes are affected in 11 out of 12 mutants
• typically, each eye contains 5-7 individual lesions composed of small white bodies (usually in clusters), indicating retinal pathology
• as early as 4 days after birth, mutant newborns exhibit mild, yet significant, disruptions of the retinal photoreceptor layer

nervous system
• similar to Rb1tm1Tyj heterozygotes, all surviving mutant mice develop large pituitary adenocarcinomas of the intermediate lobe
• as early as 4 days after birth, mutant newborns exhibit mild, yet significant, disruptions of the retinal photoreceptor layer

digestive/alimentary system
• females displaying vaginal atresia have a distended perineum as a result of fluid accumulation in the uterus


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
12/17/2024
MGI 6.24
The Jackson Laboratory