Phenotypes Associated with This Genotype

Genotype
MGI:5925397

• Allelic Composition: Cdc73^tm1Btt/Cdc73^tm1Btt; Tg(PTH-cre)4167Slib/0
• Genetic Background: Not Specified

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

endocrine/exocrine glands

increased parathyroid gland tumor incidence ( J:243366 )

• some mice exhibit parathyroid tumors over 18 months of age

• parathyroids with tumors show glandular enlargement, nuclear pleomorphism and septation

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

increased parathyroid adenoma incidence ( J:243366 )

• 75% of parathyroid tumors sow features of APAs including increased collagen deposition in the septa, reduced nuclear expression of parfibromin and increased expression of galectin-3

homeostasis/metabolism

increased circulating calcium level ( J:243366 )

• mice over 20 months of age exhibit elevated mean serum calcium concentrations

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

neoplasm

increased parathyroid gland tumor incidence ( J:243366 )

• some mice exhibit parathyroid tumors over 18 months of age

• parathyroids with tumors show glandular enlargement, nuclear pleomorphism and septation

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

increased parathyroid adenoma incidence ( J:243366 )

• 75% of parathyroid tumors sow features of APAs including increased collagen deposition in the septa, reduced nuclear expression of parfibromin and increased expression of galectin-3

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