Phenotypes Associated with This Genotype

Genotype
MGI:5811261

• Allelic Composition: Cdkn1b^tm1Ako/Cdkn1b⁺; Kit^W-v/Kit^W-v
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

mortality/aging

premature death ( J:236161 )

• sudden death is frequently seen

neoplasm

increased ovary tumor incidence ( J:236161 )

• mice exhibit enlarged ovarian tumors compared to single Kit homozygous mutants

• in aged mice, large ovarian tumors develop, infiltrate, and occupy the entire para- and meso-ovarian regions

increased ovary adenoma incidence ( J:236161 )

• ovarian tubular adenomas are bilateral

• ovaries have a tumor phenotype that is more prominent than the tubular adenomas of the double homozygous ovaries

• papillary ovarian tubular adenomas from 8 month old mice have CK8+ epithelial cells infiltrating the entire ovary, the bursa and surrounding areas and resemble ovarian cancer or severe ovarian surface papillomatosis

• however, the epithelial lesions of ovarian tumors are benign

• tumor mass is largely epithelial and contains a minor 10% of less of granulosa cells

endocrine/exocrine glands

increased ovary tumor incidence ( J:236161 )

• mice exhibit enlarged ovarian tumors compared to single Kit homozygous mutants

• in aged mice, large ovarian tumors develop, infiltrate, and occupy the entire para- and meso-ovarian regions

increased ovary adenoma incidence ( J:236161 )

• ovarian tubular adenomas are bilateral

• ovaries have a tumor phenotype that is more prominent than the tubular adenomas of the double homozygous ovaries

• papillary ovarian tubular adenomas from 8 month old mice have CK8+ epithelial cells infiltrating the entire ovary, the bursa and surrounding areas and resemble ovarian cancer or severe ovarian surface papillomatosis

• however, the epithelial lesions of ovarian tumors are benign

• tumor mass is largely epithelial and contains a minor 10% of less of granulosa cells

abnormal ovary physiology ( J:236161 )

• ovarian epithelial cells show enhanced cell proliferation in culture compared to single homozygous Kit mutants

reproductive system

increased ovary tumor incidence ( J:236161 )

• mice exhibit enlarged ovarian tumors compared to single Kit homozygous mutants

• in aged mice, large ovarian tumors develop, infiltrate, and occupy the entire para- and meso-ovarian regions

increased ovary adenoma incidence ( J:236161 )

• ovarian tubular adenomas are bilateral

• ovaries have a tumor phenotype that is more prominent than the tubular adenomas of the double homozygous ovaries

• papillary ovarian tubular adenomas from 8 month old mice have CK8+ epithelial cells infiltrating the entire ovary, the bursa and surrounding areas and resemble ovarian cancer or severe ovarian surface papillomatosis

• however, the epithelial lesions of ovarian tumors are benign

• tumor mass is largely epithelial and contains a minor 10% of less of granulosa cells

abnormal ovary physiology ( J:236161 )

• ovarian epithelial cells show enhanced cell proliferation in culture compared to single homozygous Kit mutants

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ovarian cancer		DOID:2394	OMIM:167000 OMIM:607893	J:236161