Phenotypes associated with this allele

• Allele Symbol: Ckm^tm1Bew
• Allele Name: targeted mutation 1, Be Wieringa
• Allele ID: MGI:2179990
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ckm^tm1Bew/Ckm^tm1Bew	involves: 129S7/SvEvBrd * C57BL/6	MGI:3620565
ht2	Ckm^tm1Bew/Ckm^tm2Bew	involves: 129S7/SvEvBrd * C57BL/6	MGI:3849168
cx3	Ckm^tm1Bew/Ckm^tm1Bew Ckmt2^tm1Bew/Ckmt2^tm1Bew	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:3620566
cx4	Ak1^tm1Bew/Ak1^tm1Bew Ckm^tm1Bew/Ckm^tm1Bew	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:3639109

Genotype
MGI:3620565

hm1

• Allelic Composition: Ckm^tm1Bew/Ckm^tm1Bew
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

muscle

increased skeletal muscle glycogen level ( J:76699 )

• by about 60% in type 2 skeletal muscle fibers

abnormal muscle physiology ( J:76699 )

• morphologically, both skeletal and cardiac muscle are normal

• increased mitochondrial content of type 2 skeletal muscle fibers

• 60% increase of glycogen levels in type 2 fibers

• glycogenolysis increased during exercise

• ADP increased 2X, AMP increased 8X, ATP insignificantly decreased

• phosphocreatine levels elevated but total creatine levels normal

decreased cardiac muscle contractility ( J:76204 )

• slower time to peak tension for cardiac muscle fibers

• slower time to "half relaxation" for cardiac muscle fibers

• systolic cell shortening considerably reduced

impaired skeletal muscle contractility ( J:20440 , J:76699 )

• a 45% drop in force generated by gastrocnemius-plantaris-soleus muscle complex within the first eight twitches using 5 Hz stimulation (J:20440)

• more rapid decline in "twitch" force with repeated stimulation (J:76699)

cardiovascular system

increased heart left ventricle weight ( J:101961 )

• left ventricular mass is insignificantly increased over controls

decreased cardiac muscle contractility ( J:76204 )

• slower time to peak tension for cardiac muscle fibers

• slower time to "half relaxation" for cardiac muscle fibers

• systolic cell shortening considerably reduced

decreased systemic arterial blood pressure ( J:76204 )

• much greater reductions in blood pressure due to treatment with isoprenaline

homeostasis/metabolism

increased glycogen catabolism rate ( J:76699 )

• glycogenolysis in type 2 skeletal muscle fibers increased in exercise

increased skeletal muscle glycogen level ( J:76699 )

• by about 60% in type 2 skeletal muscle fibers

cellular

abnormal cellular respiration ( J:76699 )

• increased activities of Krebs cycle enzymes

Genotype
MGI:3849168

ht2

• Allelic Composition: Ckm^tm1Bew/Ckm^tm2Bew
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

muscle

impaired skeletal muscle contractility ( J:20440 )

• a 9% drop in force generated by gastrocnemius-plantaris-soleus muscle complex within the first eight twitches using 5 Hz stimulation

Genotype
MGI:3620566

cx3

• Allelic Composition: Ckm^tm1Bew/Ckm^tm1Bew; Ckmt2^tm1Bew/Ckmt2^tm1Bew
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

growth/size/body

heart left ventricle hypertrophy ( J:101961 )

• left ventricular mass increased 64%

• no increased hypertrophy resulting from infarction

decreased body weight ( J:106327 )

• reduced body mass

muscle

heart left ventricle hypertrophy ( J:101961 )

• left ventricular mass increased 64%

• no increased hypertrophy resulting from infarction

decreased skeletal muscle mass ( J:106327 )

• dorsal flexor mass about 20% lower than controls

abnormal muscle physiology ( J:106327 )

• resting muscle ATP concentration lower than normal

impaired skeletal muscle contractility ( J:106327 )

• dorsal flexor slower to build up maximal torque

• maximal torque lower than normal

cardiovascular system

heart left ventricle hypertrophy ( J:101961 )

• left ventricular mass increased 64%

• no increased hypertrophy resulting from infarction

dilated heart left ventricle ( J:101961 )

• increased by about 30%

increased cardiac stroke volume ( J:101961 )

Genotype
MGI:3639109

cx4

• Allelic Composition: Ak1^tm1Bew/Ak1^tm1Bew; Ckm^tm1Bew/Ckm^tm1Bew
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

cellular

abnormal aerobic respiration ( J:109659 )

• increased hexokinase-catalyzed Glc-6-P turnover is observed in skeletal muscle compared to control muscle

homeostasis/metabolism

abnormal nucleotide metabolism ( J:109659 )

• guanine nucleotide metabolism is increased in mutant muscle

muscle

abnormal muscle contractility ( J:109659 )

• in isolated actomyosin complexes from mutant skeletal muscle, the time to onset of contraction after addition of 0.2 mm ATP is significantly longer than in wild-type complexes