Phenotypes Associated with This Genotype

Genotype
MGI:3582548

• Allelic Composition: Rb1^tm1Tyj/Rb1⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

premature death ( J:81082 )

• all heterozygous mutant mice die between 8.5 and 13.9 months of age

neoplasm

neoplasm ( J:2511 )

N • up to 11 months of age, none of >100 heterozygotes studied show any macroscopic sign of retinoblastoma relative to wild-type mice

N • in addition, no precursor lesions (retinomas) are detected by indirect ophthalmology or histological evaluation

increased pituitary gland tumor incidence ( J:81082 , J:2511 )

• heterozygotes develop intermediate lobe pituitary tumors (J:81082)

• at autopsy, heterozygotes with severe wasting symptoms show large pituitary adenocarcinomas (~ 6 mm in diameter) (J:2511)

• consistent with the "two-hit" model proposed by Knudson, such pituitary tumors are shown to arise from cells in which the wild-type allele is absent (J:2511)

increased thyroid tumor incidence ( J:81082 )

• 23/27 heterozygotes show c-cell thyroid tumors

growth/size/body

cachexia ( J:2511 )

• at 8-10 months of age, a number of heterozygotes display severe wasting

endocrine/exocrine glands

increased pituitary gland tumor incidence ( J:81082 , J:2511 )

• heterozygotes develop intermediate lobe pituitary tumors (J:81082)

• at autopsy, heterozygotes with severe wasting symptoms show large pituitary adenocarcinomas (~ 6 mm in diameter) (J:2511)

• consistent with the "two-hit" model proposed by Knudson, such pituitary tumors are shown to arise from cells in which the wild-type allele is absent (J:2511)

increased thyroid tumor incidence ( J:81082 )

• 23/27 heterozygotes show c-cell thyroid tumors

nervous system

increased pituitary gland tumor incidence ( J:81082 , J:2511 )

• heterozygotes develop intermediate lobe pituitary tumors (J:81082)

• at autopsy, heterozygotes with severe wasting symptoms show large pituitary adenocarcinomas (~ 6 mm in diameter) (J:2511)

• consistent with the "two-hit" model proposed by Knudson, such pituitary tumors are shown to arise from cells in which the wild-type allele is absent (J:2511)