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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atp2a2tm1Fwuy
targeted mutation 1, Frank Wuytack
MGI:3653502
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Atp2a2tm1Fwuy/Atp2a2tm1Fwuy involves: 129S1/Sv * 129X1/SvJ * Swiss MGI:3656473
cx2
Atp2a2tm1Fwuy/Atp2a2tm1Fwuy
Plntm1Egk/Plntm1Egk
involves: 129 * FVB/N * Swiss MGI:3662928


Genotype
MGI:3656473
hm1
Allelic
Composition
Atp2a2tm1Fwuy/Atp2a2tm1Fwuy
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp2a2tm1Fwuy mutation (0 available); any Atp2a2 mutation (23 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 18% of newborn homozygous mutant mice died within the first 4 days after birth (most of them at P0 or P1)
• premature death due to malfunctioning of the neonatal heart from hypoplastic left heart syndrome
• homozygous mice that survived the first postnatal days developed to adulthood
• significantly lower than expected ratio of mutant homozygous at weaning, indicating some embryonic and/or neonatal lethality
• number of intrauterine resorptions are increased at day E12.5 an E14.5 in homozygous mice compared to wild-type

cardiovascular system
• hypoplasia of the ascending aorta in preterminal mice between P0 to P4
• of the ascending aorta in preterminal mice between P0 to P4
• homozygous embryonic hearts at E12.5 to E14.5 were hypoplastic with a thinner compact layer of the ventricular wall
• in preterminal mice between P0 to P4
• in preterminal mice between P0 to P4
• a marked reduction in their long axes and a loss of the normal ellipsoid form in the heart of adult homozygous mice
• in adult homozygous mice, heart weight/body weight ratios are increased compared to wild-type
• in adult homozygous mice, histological section of hearts showed overall myocyte organization consistent with concentric hypertrophy
• in preterminal mice between P0 to P4
• in preterminal mice between P0 to P4
• in adult homozygous mice, echocardiographic measurements showed chamber size are decreased while left ventricular posterior wall and septal wall thickness are increased compared to wild-type
• fibrosis in the atrium in preterminal mice between P0 to P4
• in adult homozygous mice, histological section of hearts showed excessive interstitial fibrosis
• rate of contraction was significantly depressed in adult homozygous mice
• absolute values of +dP/dt was significantly lower in adult homozygous mice under basal condition and at all level of beta-adrenergic stimulation
• time to peak pressure and half relaxation time were prolonged in adult homozygous mice
• rate of relaxation was significantly depressed in adult homozygous mice
• absolute values of -dP/dt was significantly lower in adult homozygous mice under basal condition and at all level of beta-adrenergic stimulation
• time to peak pressure and half relaxation time were prolonged in adult homozygous mice

muscle
• homozygous embryonic hearts at E12.5 to E14.5 were hypoplastic with a thinner compact layer of the ventricular wall
• in preterminal mice between P0 to P4
• rate of contraction was significantly depressed in adult homozygous mice
• absolute values of +dP/dt was significantly lower in adult homozygous mice under basal condition and at all level of beta-adrenergic stimulation
• time to peak pressure and half relaxation time were prolonged in adult homozygous mice
• rate of relaxation was significantly depressed in adult homozygous mice
• absolute values of -dP/dt was significantly lower in adult homozygous mice under basal condition and at all level of beta-adrenergic stimulation
• time to peak pressure and half relaxation time were prolonged in adult homozygous mice

homeostasis/metabolism
• the maximum rate of ATP-dependent oxalate-facilitated calcium ion uptake was significantly reduced in cardiac homogenates of homozygous mice
• rate of calcium ion removal by the sarcoplasmic reticulum was reduced in isolated ventricular myocyte from homozygous mice

behavior/neurological
• in preterminal mice between P0 to P4
• markedly reduced spontaneous nocturnal activity in a treadmill test in homozygous surviving to adult
• homozygous mice surviving to adult are fertile
• striking sluggishness of their movements in preterminal mice between P0 to P4
• in preterminal mice between P0 to P4

growth/size/body
• preterminal mice between P0 to P4 showed a lower body weight and lack of milk consumption

reproductive system
• average litter size obtained at birth for homozygous mice we 20% lower than wild-type




Genotype
MGI:3662928
cx2
Allelic
Composition
Atp2a2tm1Fwuy/Atp2a2tm1Fwuy
Plntm1Egk/Plntm1Egk
Genetic
Background
involves: 129 * FVB/N * Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp2a2tm1Fwuy mutation (0 available); any Atp2a2 mutation (23 available)
Plntm1Egk mutation (7 available); any Pln mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• the life span of mutant mice was severely shortened at 496 average age in days

cardiovascular system
• the cardiomyocyte dimensions in double homozygous mice were increased to a much larger extent than in single Atp2a2tm1Fwuy homozygous mice
• the hearts from double homozygous mice were more hypertrophic and balloon-shaped than the heart from single Atp2a2tm1Fwuy homozygous mice
• in double homozygous mice, heart weight/body weight ratios and heart weight/tibial length ratios are increased compared to wild-type
• in double homozygous mice at 12-16 weeks, concentric hypertrophy was aggravated compared to single Atp2a2tm1Fwuy homozygous mice
• in double homozygous mice at 12-16 weeks, echocardiographic measurements showed thicker posterior wall than single Atp2a2tm1Fwuy homozygous mice
• showed a larger LV mass-measured as cross-sectional area
• LV wall thickening was not the result of increased interstitial fibrosis
• beta-adrenergic stimulation in double homozygous mice failed to increase the cardiac output
• maximal and minimal LV volume and stroke volume appeared lower in double homozygous mice at 12-16 weeks
• impaired LV relaxation assessed by dP/dt min in double homozygous mice at 12-16 weeks compared to wild-type mice
• contractility assessed by dP/dt max were normal
• in double homozygous mice at 12-16 weeks compared to wild-type
• two out of 16 double homozygous mice died after completing running performance test on a rodent treadmill displaying clinical signs of congestive heart failure
• beta-adrenergic stimulation impaired LV contractility and relaxation and caused acute heart failure during the procedure

behavior/neurological
• the spontaneous activity was severely reduced in double homozygous mice at 12-16 weeks of age compared to wild-type and single Atp2a2tm1Fwuy homozygous mice

homeostasis/metabolism
• the maximal pumping capacity of sarcoplasmic reticulum calcium ion uptake was reduced by 50% in cardiac homogenate of homozygous mutant mice

muscle
• the cardiomyocyte dimensions in double homozygous mice were increased to a much larger extent than in single Atp2a2tm1Fwuy homozygous mice
• impaired LV relaxation assessed by dP/dt min in double homozygous mice at 12-16 weeks compared to wild-type mice
• contractility assessed by dP/dt max were normal





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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
12/03/2019
MGI 6.14
The Jackson Laboratory