Phenotypes associated with this allele

• Allele Symbol: Prkag2^tm3.1Mrl
• Allele Name: targeted mutation 3.1, Merck Research Laboratory
• Allele ID: MGI:6435148
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ot1	Prkag2^tm3.1Mrl/?	C57BL/6-Prkag2^tm3.1Mrl/Tac	MGI:8187633

Genotype
MGI:8187633

ot1

• Allelic Composition: Prkag2^tm3.1Mrl/?
• Genetic Background: C57BL/6-Prkag2^tm3.1Mrl/Tac

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

behavior/neurological

decreased food intake ( J:237375 )

• food intake is decreased on both chow and high-fat diet

cardiovascular system

increased cardiac muscle glycogen level ( J:237375 )

• cardiac glycogen levels are increased by 5.6- and 46.9-fold in chow fed and high-fat diet fed mice, respectively

cardiac hypertrophy ( J:237375 )

• mice fed a chow diet develop cardiac hypertrophy at 24 weeks of age

• feeding a high-fat diet does not worsen cardiac function

abnormal sinus arrhythmia ( J:237375 )

decreased heart rate ( J:237375 )

• 70% of mice exhibit bradycardia

shortened RR interval ( J:237375 )

• mice under anesthetized conditions have shortened RR intervals

ventricular premature beat ( J:237375 )

• occasional premature ventricular contraction

shortened PR interval ( J:237375 )

• mice under anesthetized conditions have shortened PR interval

shortened PQ interval ( J:237375 )

• mice under anesthetized conditions have a shorter PQ interval, a feature of pre-excitation

• however, the QRS complex appears normal

cellular

increased kidney apoptosis ( J:237375 )

• kidneys of high-fat diet fed mice exhibit increased apoptosis

growth/size/body

cardiac hypertrophy ( J:237375 )

• mice fed a chow diet develop cardiac hypertrophy at 24 weeks of age

• feeding a high-fat diet does not worsen cardiac function

kidney cyst ( J:237375 )

• kidneys of chow fed mice show moderate to severe cyst dilatation of distal and collector tubules in the medullar rays at 26 weeks of age

• mice fed a high-fat diet show severe cystic changes in the collecting ducts

decreased susceptibility to diet-induced obesity ( J:237375 )

• mice gain less weight than wild-type mice when fed a high-fat diet, with fat mass 32.5% lower at 20 weeks of age

• however, mice exhibit normal body weight and body weight gain on a chow diet

homeostasis/metabolism

increased cardiac muscle glycogen level ( J:237375 )

• cardiac glycogen levels are increased by 5.6- and 46.9-fold in chow fed and high-fat diet fed mice, respectively

decreased susceptibility to diet-induced obesity ( J:237375 )

• mice gain less weight than wild-type mice when fed a high-fat diet, with fat mass 32.5% lower at 20 weeks of age

• however, mice exhibit normal body weight and body weight gain on a chow diet

increased circulating ketone body level ( J:237375 )

• plasma ketone levels are increased in mice on the high-fat diet

decreased circulating cholesterol level ( J:237375 )

• plasma cholesterol levels are lower in mice on a high-fat diet under fed conditions

decreased circulating free fatty acids level ( J:237375 )

• plasma free fatty acid levels are lower in mice on a high-fat diet under fed conditions

decreased circulating triglyceride level ( J:237375 )

• plasma levels of triglycerides are lower in mice on a high-fat diet under fed conditions

improved glucose tolerance ( J:237375 )

• mice fed a high-fat diet show improved glucose tolerance

• however, mice show normal glucose tolerance on a chow diet

increased kidney glycogen level ( J:237375 )

• kidney glycogen content is increased by 4.3- and 6.8-fold in mice fed a chow diet and high-fat diet, respectively

increased skeletal muscle glycogen level ( J:237375 )

• glycogen content in skeletal muscle is increased by 4- and 1.9-fold in mice fed chow diet and high-fat diet, respectively

increased insulin sensitivity ( J:237375 )

• mice fed a high-fat diet show improved insulin tolerance

• however, mice show normal insulin tolerance on a chow diet

proteinosis ( J:237375 )

• occasional kidney proteinosis is seen in kidneys of chow-fed mice

abnormal urine albumin level ( J:237375 )

• high-fat diet fed mice show 2-fold higher levels of urinary albumin/creatinine ratio

• chow diet fed mice show an 87% increase in urinary albumin/creatinine ratio

increased urine protein level ( J:237375 )

• protein casts in kidney tubules are prominent in mice fed either the chow diet or high-fat diet, indicating proteinurea

immune system

kidney inflammation ( J:237375 )

• many foci of necrosis, lymphocyte infiltration, and regeneration are seen in the tubulointerstitial compartment of high-fat diet fed mice, indicating severe kidney inflammation

liver/biliary system

decreased susceptibility to diet-induced hepatic steatosis ( J:237375 )

• mice are protected from developing liver steatosis after high-fat diet feeding

muscle

increased cardiac muscle glycogen level ( J:237375 )

• cardiac glycogen levels are increased by 5.6- and 46.9-fold in chow fed and high-fat diet fed mice, respectively

increased skeletal muscle glycogen level ( J:237375 )

• glycogen content in skeletal muscle is increased by 4- and 1.9-fold in mice fed chow diet and high-fat diet, respectively

renal/urinary system

increased kidney apoptosis ( J:237375 )

• kidneys of high-fat diet fed mice exhibit increased apoptosis

abnormal urine albumin level ( J:237375 )

• high-fat diet fed mice show 2-fold higher levels of urinary albumin/creatinine ratio

• chow diet fed mice show an 87% increase in urinary albumin/creatinine ratio

increased urine protein level ( J:237375 )

• protein casts in kidney tubules are prominent in mice fed either the chow diet or high-fat diet, indicating proteinurea

kidney inflammation ( J:237375 )

• many foci of necrosis, lymphocyte infiltration, and regeneration are seen in the tubulointerstitial compartment of high-fat diet fed mice, indicating severe kidney inflammation

abnormal kidney morphology ( J:237375 )

• mice fed a high-fat diet develop severe kidney injury, showing gross discoloration of the kidney, tubular degeneration, as indicated by papilla dilatation and severe cystic changes (with proteinosis) in the collecting ducts

• foci of amyloid deposits and areas of collagen fibers are seen in kidneys of high-fat diet fed mice

• however, no difference in kidney lipid content is seen in mice fed either the chow or high-fat diet

kidney cyst ( J:237375 )

• kidneys of chow fed mice show moderate to severe cyst dilatation of distal and collector tubules in the medullar rays at 26 weeks of age

• mice fed a high-fat diet show severe cystic changes in the collecting ducts

increased kidney glycogen level ( J:237375 )

• kidney glycogen content is increased by 4.3- and 6.8-fold in mice fed a chow diet and high-fat diet, respectively

abnormal kidney papilla morphology ( J:237375 )

• mice fed a high-fat diet exhibit papilla dilatation

abnormal renal tubule morphology ( J:237375 )

• mice fed a high-fat diet exhibit tubular degeneration

• high-fat diet fed mice show 8.5-fold and 27.2-fold increase in levels of renal tubular injury biomarkers, KIM-1 and NGAL, respectively

• chow diet fed mice show a 57% increase in levels of renal tubular injury biomarkers, KIM-1 and NGAL

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Wolff-Parkinson-White syndrome		DOID:384	OMIM:194200	J:237375