Phenotypes associated with this allele

• Allele Symbol: Slc8a1^tm1Kdp
• Allele Name: targeted mutation 1, Kenneth D Philipson
• Allele ID: MGI:3604379
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Myl2^tm1(cre)Krc/Myl2^+ Slc8a1^tm1Kdp/Slc8a1^tm1Kdp	involves: 129S4/SvJae	MGI:3604781

Genotype
MGI:3604781

cn1

• Allelic Composition: Myl2^tm1(cre)Krc/Myl2⁺; Slc8a1^tm1Kdp/Slc8a1^tm1Kdp
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

premature death ( J:101484 )

• about 10% of mutants die at 103 +/- 7 days of age

pregnancy-related premature death ( J:101484 )

• all (6) mutant females that gave birth died within 9+/-2 days of delivery and 4 mutant females died after mating but before delivery

cardiovascular system

enlarged heart ( J:101484 )

• mutants that die at 103 +/- 7 days of age have enlarged hearts

decreased cardiac muscle contractility ( J:101484 )

• at 7 - 8 weeks of age, fractional shortening, velocity of circumferential fiber shortening, and ejection fraction are reduced by 30%, 25%, and 21%, respectively; however no signs of hypertrophy are seen at this time

• impairment of cardiac function increases with age

abnormal myocardial fiber physiology ( J:101484 )

• the decline of caffeine-induced calcium transients is slower in mutant cells and caffeine-induced Na+-Ca2+ exchange current is absent

• current-voltage relationships for voltage-dependent L-type Ca2+ currents are decreased

muscle

decreased cardiac muscle contractility ( J:101484 )

• at 7 - 8 weeks of age, fractional shortening, velocity of circumferential fiber shortening, and ejection fraction are reduced by 30%, 25%, and 21%, respectively; however no signs of hypertrophy are seen at this time

• impairment of cardiac function increases with age

growth/size/body

enlarged heart ( J:101484 )

• mutants that die at 103 +/- 7 days of age have enlarged hearts