Phenotypes Associated with This Genotype

Genotype
MGI:5925391

• Allelic Composition: Cdc73^{Gt(RRE190)Byg}/Cdc73⁺
• Genetic Background: B6.129P2-Cdc73^{Gt(RRE190)Byg}

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

mortality/aging

premature death ( J:243366 )

♂ • decrease in survival of male mice is seen from 7 months of age

neoplasm

increased parathyroid gland tumor incidence ( J:243366 )

• 68% of mice exhibit parathyroid tumors between 9 and 18 months of age

• parathyroid tumors have higher daily proliferation rates compared to wild-type parathyroids

• however, ossifying fibromas of the jaw, and tumors of the kidneys, thyroid, pancreas or testis are not seen

increased parathyroid adenoma incidence ( J:243366 )

• 25% of parathyroid tumors are adenomas and 75% are atypical parathyroid adenomas

increased uterus tumor incidence ( J:243366 )

♀ • 33% of females aged over 18 months of age exhibit uterine tumors

♀ • uterine tumors include adenofibroma and adenomyoma

craniofacial

abnormal jaw morphology ( J:243366 )

• jaw bones show 2-fold increase in proliferation rates

endocrine/exocrine glands

increased parathyroid gland tumor incidence ( J:243366 )

• 68% of mice exhibit parathyroid tumors between 9 and 18 months of age

• parathyroid tumors have higher daily proliferation rates compared to wild-type parathyroids

• however, ossifying fibromas of the jaw, and tumors of the kidneys, thyroid, pancreas or testis are not seen

increased parathyroid adenoma incidence ( J:243366 )

• 25% of parathyroid tumors are adenomas and 75% are atypical parathyroid adenomas

increased activity of parathyroid ( J:243366 )

• mice over 17 months of age show features of primary hyperparathyroidism

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:243366 )

• mice with parathyroid tumors exhibit increased mean serum parathyroid hormone concentration

increased circulating calcium level ( J:243366 )

• mice with parathyroid tumors exhibit increased mean serum calcium concentrations

• however, levels of serum phosphate, creatinine, and albumin are normal

reproductive system

uterus cyst ( J:243366 )

♀ • uteri of females aged over 18 months has large cysts within the endometrium

increased uterus tumor incidence ( J:243366 )

♀ • 33% of females aged over 18 months of age exhibit uterine tumors

♀ • uterine tumors include adenofibroma and adenomyoma

endometrium hyperplasia ( J:243366 )

♀ • endometrial hyperplasia with areas of squamous metaplasia

abnormal myometrium morphology ( J:243366 )

♀ • myometria have a 2-fold increase in proliferation rates

skeleton

abnormal jaw morphology ( J:243366 )

• jaw bones show 2-fold increase in proliferation rates

growth/size/body

uterus cyst ( J:243366 )

♀ • uteri of females aged over 18 months has large cysts within the endometrium

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hyperparathyroidism		DOID:13543	OMIM:145000 OMIM:145001 OMIM:610071	J:243366