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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ryr2tm1.1Clhh
targeted mutation 1.1, Christopher Huang
MGI:5432111
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ryr2tm1.1Clhh/Ryr2tm1.1Clhh 129S/SvEv-Ryr2tm1.1Clhh MGI:5432115
ht2
Ryr2tm1.1Clhh/Ryr2+ 129S/SvEv-Ryr2tm1.1Clhh MGI:5432114


Genotype
MGI:5432115
hm1
Allelic
Composition
Ryr2tm1.1Clhh/Ryr2tm1.1Clhh
Genetic
Background
129S/SvEv-Ryr2tm1.1Clhh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr2tm1.1Clhh mutation (0 available); any Ryr2 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• with programmed electrical stimulation
• tendency towards non-sustained ventricular tachycardia compared and sustained ventricular tachycardia
• during intrinsic activity, mice exhibit arrhythmic behavior compared with wild-type mice
• during regular pacing and programmed electrical stimulation at varying frequencies in the absence or presence of isoproterenol
• cardiac myocytes exhibit increased mean peak calcium transients and evoked responses with subsidiary events compared with wild-type cells
• before and after isoproterenol, cardiac myocytes exhibit increased numbers of ectopic calcium transient peaks
• isoproterenol treated cardiac myocytes fail to exhibit evoked responses with subsidiary calcium transient events unlike wild-type cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
catecholaminergic polymorphic ventricular tachycardia 1 DOID:0060675 OMIM:604772
J:186379




Genotype
MGI:5432114
ht2
Allelic
Composition
Ryr2tm1.1Clhh/Ryr2+
Genetic
Background
129S/SvEv-Ryr2tm1.1Clhh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr2tm1.1Clhh mutation (0 available); any Ryr2 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• non-sustained with programmed electrical stimulation
• in the absence of isoproterenol and when regularly paced, mice exhibit few arrhythmogenic phenomena compared with wild-type mice
• when regularly paced, isoproterenol treated mice exhibit exacerbation of arrhythmogenicity compared with wild-type mice
• cardiac myocytes treated with isoproterenol fail to exhibit ectopic calcium transient peaks or evoked responses with subsidiary calcium transient events unlike wild-type cells





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)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory