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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Prkar1atm1Gsm
targeted mutation 1, G Stanley McKnight
MGI:2183602
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Prkar1atm1Gsm/Prkar1atm1Gsm involves: 129X1/SvJ * C57BL/6 MGI:3625127
ht2
Prkar1atm1Gsm/Prkar1a+ involves: 129X1/SvJ MGI:3625140
cx3
Prkacatm1Gsm/Prkacatm1Gsm
Prkar1atm1Gsm/Prkar1atm1Gsm
involves: 129X1/SvJ * C57BL/6 MGI:3625132


Genotype
MGI:3625127
hm1
Allelic
Composition
Prkar1atm1Gsm/Prkar1atm1Gsm
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkar1atm1Gsm mutation (1 available); any Prkar1a mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Prkar1atm1Gsm/Prkar1atm1Gsm embryos are severely growth-retarded

mortality/aging

growth/size/body
• severe growth retardation with developmental delay
• the E9.5 mutant embryo is similar in size to an E8 wild-type embryo
• greatly reduced trunk structure, however anterior-posterior axis is clearly apparent
• smaller by E7.5

cardiovascular system
• the cardiogenic plate, rather than being displaced more caudally by the formation of the heart tube, it is tightly juxtaposed to the proencephalon
• heart tube does not form although a cardiogenic plate is present

embryo
• do not initiate the embryo turning process that occurs at the 7-8 somite transition
• severe growth retardation with developmental delay
• the E9.5 mutant embryo is similar in size to an E8 wild-type embryo
• greatly reduced trunk structure, however anterior-posterior axis is clearly apparent
• smaller by E7.5
• mutant embryos have a flattened morphology by E7.5
• axial mesoderm is greatly reduced in size
• paraxial mesoderm is greatly reduced in size
• reduction in primitive streak mesoderm
• exhibit aberrant and highly disorganized migration of mesodermal cells away from the primitive streak
• about 1/3 the number of mesodermal cells exit the streak and move laterally and anteriorly, resulting in an accumulation of presumptive mesoderm beneath the primitive streak
• somites are irregularly shaped at E9.5
• somites are very small at E9.5
• exhibit a ruffled yolk sac membrane by E7.5

cellular
• mesodermal primary embryonic fibroblasts from E8.5 embryos have a flattened and box-shaped or rounded morphology with multiple actin organizing centers that extend in all directions rather than the typical spindled morphology with sparse parallel actin fibers

homeostasis/metabolism
• mesodermal primary embryonic fibroblasts complete wound healing faster than wild-type fibroblasts

digestive/alimentary system
• absence of a heart tube leads to a more radical angle of entry of the foregut




Genotype
MGI:3625140
ht2
Allelic
Composition
Prkar1atm1Gsm/Prkar1a+
Genetic
Background
involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkar1atm1Gsm mutation (1 available); any Prkar1a mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Tumors in Prkar1atm1Gsm/Prkar1a+ mice

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

liver/biliary system
• 5 of 12 mutants that develop tumors have hepatocellular carcinomas

reproductive system

neoplasm
• increase in frequency of extracardiac tumors; 12 of 17 mutants developed tumors
• 5 of 12 mutants that develop tumors have hepatocellular carcinomas
• 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
• 2 of 12 mutants that develop tumors have s.c. soft tissue myxoid fibrosarcomas of the forelimb
• 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
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




Genotype
MGI:3625132
cx3
Allelic
Composition
Prkacatm1Gsm/Prkacatm1Gsm
Prkar1atm1Gsm/Prkar1atm1Gsm
Genetic
Background
involves: 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prkacatm1Gsm mutation (1 available); any Prkaca mutation (15 available)
Prkar1atm1Gsm mutation (1 available); any Prkar1a mutation (16 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• E10.5 embryos exhibit an expanded fluid-filled pericardial cavity, even though exhibit rescue of the other phenotypes seen in Prkar1a null mice (develop a heart tube, undergo embryo turning, etc)

homeostasis/metabolism
• E10.5 embryos exhibit an expanded fluid-filled pericardial cavity, even though exhibit rescue of the other phenotypes seen in Prkar1a null mice (develop a heart tube, undergo embryo turning, etc)





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/17/2023
MGI 6.22
The Jackson Laboratory