Phenotypes associated with this allele

• Allele Symbol: Prkg1^tm1Hfm
• Allele Name: targeted mutation 1, Franz Hofmann
• Allele ID: MGI:2181586
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prkg1^tm1Hfm/Prkg1^tm1Hfm	involves: C57BL/6N	MGI:5501264
hm2	Prkg1^tm1Hfm/Prkg1^tm1Hfm	Not Specified	MGI:2668849

Genotype
MGI:5501264

hm1

• Allelic Composition: Prkg1^tm1Hfm/Prkg1^tm1Hfm
• Genetic Background: involves: C57BL/6N

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

adipose tissue

decreased brown adipose tissue amount ( J:199222 )

abnormal adipose tissue development ( J:199222 )

• impaired brown adipocyte differentiation

decreased brown fat cell lipid droplet size ( J:199222 )

decreased fat cell mitochondrial DNA content ( J:199222 )

• in vitro in differentiated adipocytes and in vivo

abnormal brown adipose tissue thermogenesis ( J:199222 )

• reduced

homeostasis/metabolism

decreased body surface temperature ( J:199222 )

• due to reduced brown adipose tissue thermogenic activity

decreased triglyceride level ( J:199222 )

• in interscapular brown adipose tissue

cellular

decreased fat cell mitochondrial DNA content ( J:199222 )

• in vitro in differentiated adipocytes and in vivo

Genotype
MGI:2668849

hm2

• Allelic Composition: Prkg1^tm1Hfm/Prkg1^tm1Hfm
• Genetic Background: Not Specified

cardiovascular system

abnormal cardiac muscle relaxation ( J:48058 )

• mutants exhibit reduced relaxation in aortic rings in response to acetylcholine, an inducer of NO synthesis, indicating absence of nitric oxide (NO)/cGMP dependent relaxation of cardiac muscle

abnormal systemic arterial blood pressure ( J:48058 )

• hypertensive effects of L-NNA (N^G-nitro-L-arginine) and the hypotensive effects of DEA-NO are absent in mutants

hypertension ( J:48058 )

increased mean systemic arterial blood pressure ( J:48058 )

• mean arterial blood pressure is significantly higher in unrestrained, conscious mice than in wild-type mice but normal in anaesthetized mice

• older mice exhibit normal arterial blood pressure

abnormal vascular smooth muscle physiology ( J:48058 )

• although basal intracellular calcium concentration in vascular smooth muscle cells is normal, a cGMP analog, 8-Br-cGMP, which attenuates the transient intracellular calcium concentration in wild-type cells to 35% has no effect on the intracellular calcium concentrations in mutant cells

muscle

abnormal cardiac muscle relaxation ( J:48058 )

• mutants exhibit reduced relaxation in aortic rings in response to acetylcholine, an inducer of NO synthesis, indicating absence of nitric oxide (NO)/cGMP dependent relaxation of cardiac muscle

abnormal vascular smooth muscle physiology ( J:48058 )

• although basal intracellular calcium concentration in vascular smooth muscle cells is normal, a cGMP analog, 8-Br-cGMP, which attenuates the transient intracellular calcium concentration in wild-type cells to 35% has no effect on the intracellular calcium concentrations in mutant cells

pyloric sphincter hypertrophy ( J:48058 )

abnormal intestinal peristalsis ( J:48058 )

• intestinal motility is impaired; passage of dye into the duodenum is delayed, spastic contractions of long intestinal segments followed by scarce and slow relaxations are seen instead of regular peristalsis

impaired smooth muscle contractility ( J:94387 )

• no phasic contraction response or relaxation is seen after exposure to cGMP in smooth muscle from the colon and little or no relaxation is seen in cGMP exposed phenylephrine-precontracted aortic segments

• cGMP has no effect on Ca²⁺ transients in mutant smooth muscle unlike in wild-type smooth muscle

impaired muscle relaxation ( J:48058 , J:60928 )

• mutant gastric fundus muscle strips exhibit impaired relaxation in response to electrical field stimulation; the first relaxation phase (rapid and transient) is absent, while the second phase (slower onset that lasts longer) is similar to wild-type (J:48058)

• 8-Br-cGMP treatment of gastric fundus muscle does not completely relax the muscles as in wild-type (J:48058)

• corpora cavernosa fails to relax on activation of the nitric oxide/cGMP signaling cascade but shows normal relaxation in response to forskolin induced cAMP elevation (J:60928)

reproductive system

abnormal penile erection ( J:60928 )

♂ • corpora cavernosa fails to relax on activation of the nitric oxide/cGMP signaling cascade but shows normal relaxation in response to forskolin induced cAMP elevation

reduced male fertility ( J:60928 )

♂ • however, females are fertile and sperm is morphologically normal, exhibits normal motility, can undergo acrosomal reactions and able to fertilize eggs in vitro

digestive/alimentary system

abnormal intestine morphology ( J:48058 )

• intestinal distension, especially of the caecum

stomach fundus hypertrophy ( J:48058 )

• hypertrophy of the gastric fundus

pyloric sphincter hypertrophy ( J:48058 )

pyloric stenosis ( J:48058 )

abnormal intestinal peristalsis ( J:48058 )

• intestinal motility is impaired; passage of dye into the duodenum is delayed, spastic contractions of long intestinal segments followed by scarce and slow relaxations are seen instead of regular peristalsis

abnormal intestinal transit time ( J:48058 )

• passage of dye into the duodenum is delayed

• at a time when the stomach is empty in wild-type mice, in mutants the stomach still contains contrast dye and the small intestine just begins to fill