About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Asphtm1Egk
targeted mutation 1, Evangelia G Kranias
MGI:3774139
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Asphtm1Egk/Asphtm1Egk Not Specified MGI:3811677


Genotype
MGI:3811677
hm1
Allelic
Composition
Asphtm1Egk/Asphtm1Egk
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Asphtm1Egk mutation (0 available); any Asph mutation (61 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 25% of mice die by 3 months and over 50% by 12 months of age

cardiovascular system
N
• despite premature death and abnormal myocardial fiber physiology, mice do not exhibit any cardiac morphological alterations or structural abnormalities
• fractional shortening is increased 19% compared to in wild-type mice and the rate corrected velocity of circumferential fiber shortening is increased 30% compared to in wild-type mice
• mice exhibit decreased ejection time compared to in wild-type mice
• long term exposure to isoproterenol induces premature ventricular contractions, sinus asystole and atrioventricular block
• mice treated with isoproterenol exhibit ventricular tachycardia associated with premature ventricular contractions and atrioventricular heart blocks unlike similarly treated wild-type mice
• mice treated with isoproterenol exhibit ventricular tachycardia associated with premature ventricular contractions and atrioventricular heart blocks unlike similarly treated wild-type mice
• long term exposure to isoproterenol induces premature ventricular contractions, sinus asystole and atrioventricular block
• sodium calcium ion exchanged current is increased by 67% compared to in wild-type cardiomyocytes
• peak calcium is increased 54% and constant calcium decay is shorter compared to in wild-type cardiomyocytes
• the amplitude of caffeine-induced calcium release is increased 30% and subsequent constant calcium decay is decreased compared to in wild-type cardiomyocytes
• cardiomyocytes exhibit a blunted response to beta-adrenergic stimulus compared to wild-type cardiomyocytes
• however, maximal beta-adrenergic stimulated parameter are similar to in wild-type cardiomyocytes
• myocytes exhibit increased calcium spark frequency and amplitude compared to in wild type cardiomyocytes
• following 2 to 3 trains of 5 Hz field stimulation, 16% of cardiomyocytes exhibit aftercontractions unlike wild-type cells and treatment with isoproterenol increased aftercontraction frequency to 54% compared to 8% in similarly treated wild-type cells
• following 2 to 3 trains of 5 Hz field stimulation and isoproterenol treatment, 60% of cardiomyocytes exhibit abnormal calcium transients compared to 9% of similarly treated wild type cells
• under increased frequency of stimulation (5 Hz), 32% of cardiomyocytes exhibit delayed afterdepolarizations (DADs) compared to 6% of similarly treated wild-type cells
• under increased frequency of stimulation (5 Hz) and following treatment with isoproterenol, 90% of cardiomyocytes exhibit DADs with 72% suprathreshold compared to 21% of wild-type cells with 43% suprathreshold

muscle
• fractional shortening is increased 19% compared to in wild-type mice and the rate corrected velocity of circumferential fiber shortening is increased 30% compared to in wild-type mice
• mice exhibit decreased ejection time compared to in wild-type mice

homeostasis/metabolism
• following 2 to 3 trains of 5 Hz field stimulation, 16% of cardiomyocytes exhibit aftercontractions unlike wild-type cells and treatment with isoproterenol increased aftercontraction frequency to 54% compared to 8% in similarly treated wild-type cells
• following 2 to 3 trains of 5 Hz field stimulation and isoproterenol treatment, 60% of cardiomyocytes exhibit abnormal calcium transients compared to 9% of similarly treated wild type cells
• under increased frequency of stimulation (5 Hz), 32% of cardiomyocytes exhibit delayed afterdepolarizations (DADs) compared to 6% of similarly treated wild-type cells
• under increased frequency of stimulation (5 Hz) and following treatment with isoproterenol, 90% of cardiomyocytes exhibit DADs with 72% suprathreshold compared to 21% of wild-type cells with 43% suprathreshold





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
11/12/2024
MGI 6.24
The Jackson Laboratory