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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Ryr2tm4.1Amks
targeted mutation 4.1, Andrew R Marks
MGI:5582511
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Ryr2tm4.1Amks/Ryr2+ involves: 129 * C57BL/6 MGI:5582594


Genotype
MGI:5582594
ht1
Allelic
Composition		 Ryr2tm4.1Amks/Ryr2+
Genetic
Background		 involves: 129 * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ryr2tm4.1Amks mutation (0 available); any Ryr2 mutation (325 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system
abnormal myocardial fiber morphology ( J:212640 )
• leaky calcium channels in the sarcoplasmic reticulum of atrial myocytes
atrial fibrillation ( J:212640 )
• induced by atrial burst pacing in 5 of 14 mice

muscle
abnormal myocardial fiber morphology ( J:212640 )
• leaky calcium channels in the sarcoplasmic reticulum of atrial myocytes
abnormal sarcoplasmic reticulum morphology ( J:212640 )
• leaky calcium channels in the sarcoplasmic reticulum of atrial myocytes

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
catecholaminergic polymorphic ventricular tachycardia 1 DOID:0060675 OMIM:604772
 J:212640




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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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory