Phenotypes Associated with This Genotype

Genotype
MGI:3844276

• Allelic Composition: Tg(PTH-CCND1)PC2Anar/0
• Genetic Background: FVB/N-Tg(PTH-CCND1)PC2Anar

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

endocrine/exocrine glands

abnormal parathyroid gland morphology ( J:69423 )

• 59% of mice exhibit asymmetric parathyroid glands unlike in wild-type mice

enlarged parathyroid gland ( J:69423 )

• 2- to 3-fold

parathyroid gland hyperplasia ( J:69423 )

• at 1 year, parathyroid glandular size and cellularity are increased compared to in wild-type mice

increased parathyroid adenoma incidence ( J:69423 )

• after 18 months, parathyroid glands develop adenomatous with an asymmetric, multilobular, and tubular pattern, which is encapsulated, compresses surrounding tissue, and contains chief cells with more cytoplasm than normal

abnormal parathyroid gland physiology ( J:69423 )

• cell proliferation within the parathyroid gland is increased compared to in wild-type mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:69423 )

N • despite increased serum calcium and PTH levels, creatinine serum levels are normal

increased circulating parathyroid hormone level ( J:69423 )

• at 12 to 13 months of age, levels of serum PTH are higher than in wild-type mice

• following intraperitoneal injection of calcium, PTH response is altered compared to in similarly treated wild-type mice

abnormal circulating mineral level ( J:69423 )

• serum phosphorus levels are lower than in wild-type mice

increased circulating calcium level ( J:69423 )

• at 12 to 13 months of age

skeleton

abnormal bone structure ( J:69423 )

• mice exhibit an increase in bone marrow area to total tissue area and osteoclast numbers to bone area compared to in wild-type mice

increased osteoclast cell number ( J:69423 )

• osteoclast numbers are increased compared to in wild-type mice

• mice exhibit an increase in osteoclast numbers to bone area compared to in wild-type mice

decreased bone volume ( J:69423 )

• bone volume and total bone volume percentage are decreased compared to in wild-type mice

abnormal bone ossification ( J:69423 )

• bone formation is increased compared to in wild-type mice

abnormal bone remodeling ( J:69423 )

• bone turnover is increased compared to in wild-type mice

neoplasm

increased parathyroid adenoma incidence ( J:69423 )

• after 18 months, parathyroid glands develop adenomatous with an asymmetric, multilobular, and tubular pattern, which is encapsulated, compresses surrounding tissue, and contains chief cells with more cytoplasm than normal

immune system

increased osteoclast cell number ( J:69423 )

• osteoclast numbers are increased compared to in wild-type mice

• mice exhibit an increase in osteoclast numbers to bone area compared to in wild-type mice

hematopoietic system

increased osteoclast cell number ( J:69423 )

• osteoclast numbers are increased compared to in wild-type mice

• mice exhibit an increase in osteoclast numbers to bone area compared to in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary hyperparathyroidism		DOID:11202	OMIM:600166	J:69423