Phenotypes associated with this allele

• Allele Symbol: Ryr2^tm1.1Hta
• Allele Name: targeted mutation 1.1, Hiroshi Takeshima
• Allele ID: MGI:3640298
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ryr2^tm1.1Hta/Ryr2^tm1.1Hta	involves: 129S4/SvJae	MGI:3640340

Genotype
MGI:3640340

hm1

• Allelic Composition: Ryr2^tm1.1Hta/Ryr2^tm1.1Hta
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:48277 )

• die around E10.5

cardiovascular system

abnormal myocardial trabeculae morphology ( J:48277 )

• irregular at E9.5

disorganized myocardium ( J:48277 )

• irregular at E9.5; however, spontaneous rhythmic contractions are seen at this time

abnormal fetal cardiomyocyte morphology ( J:48277 )

• at E8.5, the rough endoplasmic reticulum appears partly swollen; at E9.5 and E10.5, many vacuoles are present in the cardiomyocytes and the rough endoplasmic reticulum is absent

abnormal fetal cardiomyocyte mitochondrial morphology ( J:48277 )

• at E9.5 and E10.5, cardiomyocyte mitochondria have tubular cristae and are smaller with swollen, round structures present at E10.5

fetal cardiomyocyte vacuoles ( J:48277 )

• at E9.5 and E10.5, many vacuoles are present in the cardiomyocytes; these vacuoles correspond to developing sarcoplasmic reticulum vesicles and contain precipitates of calcium oxalate

abnormal epicardium morphology ( J:48277 )

• poorly organized at E9.5

abnormal fetal cardiomyocyte physiology ( J:48277 )

• cardiomyocytes do not show any change in calcium transients in response to caffeine

growth/size/body

embryonic growth retardation ( J:48277 )

• at E9.5

muscle

abnormal myocardial trabeculae morphology ( J:48277 )

• irregular at E9.5

disorganized myocardium ( J:48277 )

• irregular at E9.5; however, spontaneous rhythmic contractions are seen at this time

abnormal fetal cardiomyocyte mitochondrial morphology ( J:48277 )

• at E9.5 and E10.5, cardiomyocyte mitochondria have tubular cristae and are smaller with swollen, round structures present at E10.5

embryo

embryonic growth retardation ( J:48277 )

• at E9.5

cellular

abnormal fetal cardiomyocyte mitochondrial morphology ( J:48277 )

• at E9.5 and E10.5, cardiomyocyte mitochondria have tubular cristae and are smaller with swollen, round structures present at E10.5