Phenotypes Associated with This Genotype

Genotype
MGI:3625140

• Allelic Composition: Prkar1a^tm1Gsm/Prkar1a⁺
• Genetic Background: involves: 129X1/SvJ

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

Tumors in Prkar1a^tm1Gsm/Prkar1a⁺ mice

cardiovascular system

decreased heart rate variability ( J:93393 )

• depressed heart rate variability, however exhibit no heart rate changes, conduction delay or any cardiac myxomas

liver/biliary system

increased hepatocellular carcinoma incidence ( J:93393 )

• 5 of 12 mutants that develop tumors have hepatocellular carcinomas

reproductive system

reduced male fertility ( J:93393 )

♂

neoplasm

increased tumor incidence ( J:93393 )

• increase in frequency of extracardiac tumors; 12 of 17 mutants developed tumors

increased hepatocellular carcinoma incidence ( J:93393 )

• 5 of 12 mutants that develop tumors have hepatocellular carcinomas

increased sarcoma incidence ( J:93393 )

• 3 of 12 mutants that develop tumors have soft tissue sarcomas with myxomatous differentiation invading the calvaria

• 2 of 12 mutants that develop tumors have paraspinal and spinal sarcomas (chondro- and meningeal saracomas) with cord compression and lower limb paralysis

increased fibrosarcoma incidence ( J:93393 )

• 2 of 12 mutants that develop tumors have s.c. soft tissue myxoid fibrosarcomas of the forelimb

increased hemangiosarcoma incidence ( J:93393 )

• 4 of 12 mutants that develop tumors have hemangiosarcomas of the spleen with myxoid regions

• splenic hemangiosarcomas are associated with metachronous lesions including colonic, ovarian, and pulmonary hemangiosarcomas

pigmentation

pigmentation phenotype ( J:93393 )

N • pigmentation is normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Carney complex		DOID:0050471	OMIM:160980 OMIM:605244 OMIM:608837	J:93393