Phenotypes Associated with This Genotype

Genotype
MGI:4868217

• Allelic Composition: Prkar1a^tm1.1Lsk/Prkar1a⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

skeleton

increased skeletal tumor incidence ( J:160299 )

• heterozygotes develop bone lesions derived from camp-responsive osteogenic cells and resemble fibrous dysplasia

• about 50% of mutants develop osteomyoxomas in the caudal vertebrae by 8 months of age, with 100% of mice showing these by one year

increased osteosarcoma incidence ( J:160299 )

• rare development of metastatic osteochondrosarcomas

decreased bone mineral density ( J:160299 )

abnormal bone mineralization ( J:160299 )

• overall bone mineralization density is lower than in wild-type mice

neoplasm

increased thyroid tumor incidence ( J:160299 )

increased Schwannoma incidence ( J:160299 )

increased skeletal tumor incidence ( J:160299 )

• heterozygotes develop bone lesions derived from camp-responsive osteogenic cells and resemble fibrous dysplasia

• about 50% of mutants develop osteomyoxomas in the caudal vertebrae by 8 months of age, with 100% of mice showing these by one year

increased osteosarcoma incidence ( J:160299 )

• rare development of metastatic osteochondrosarcomas

endocrine/exocrine glands

increased thyroid tumor incidence ( J:160299 )

nervous system

increased Schwannoma incidence ( J:160299 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Carney complex		DOID:0050471	OMIM:160980 OMIM:605244 OMIM:608837	J:160299