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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ppp1r13ltm1.1Xlu
targeted mutation 1.1, Xin Lu
MGI:5295045
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ppp1r13ltm1.1Xlu/Ppp1r13ltm1.1Xlu involves: 129 * BALB/cJ * C57BL/6J MGI:5295046
hm2
Ppp1r13ltm1.1Xlu/Ppp1r13ltm1.1Xlu involves: 129 * C57BL/6J MGI:5910392
ht3
Ppp1r13ltm1.1Xlu/Ppp1r13l+ involves: 129 * BALB/cJ * C57BL/6J MGI:5295047
ht4
Ppp1r13ltm1.1Xlu/Ppp1r13l+ involves: 129 * C57BL/6J MGI:5910401


Genotype
MGI:5295046
hm1
Allelic
Composition
Ppp1r13ltm1.1Xlu/Ppp1r13ltm1.1Xlu
Genetic
Background
involves: 129 * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp1r13ltm1.1Xlu mutation (0 available); any Ppp1r13l mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Impaired epithelial stratification in Ppp1r13ltm1.1Xlu/Ppp1r13ltm1.1Xlu mice

integument
• epithelial stratification is disrupted

cellular
• late passage mouse embryonic fibroblasts are enlarged and flattened compared with wild-type cells
• in mouse embryonic fibroblasts
• in mouse embryonic fibroblasts




Genotype
MGI:5910392
hm2
Allelic
Composition
Ppp1r13ltm1.1Xlu/Ppp1r13ltm1.1Xlu
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp1r13ltm1.1Xlu mutation (0 available); any Ppp1r13l mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice show a more rapid mortality beginning at 10 weeks of age, with a median survival of 40 weeks
• mice die of sudden cardiac death without signs of prior illness

cardiovascular system
• loss of cardiac muscle in the right ventricular wall
• accumulation of fat droplets is only seen at sites of fibrosis in all hearts
• E16.5 and E18.5 hearts show severe disruption of the myocardial structure, with a variegated pattern of muscle damage
• loss of myocardial integrity that includes the interventricular septum is seen by E18.5
• interaction between the desmin-containing intermediate filaments is disrupted in desmosomes
• intercalated discs of cardiomyocytes show abnormal distribution of proteins
• 12 week old mice show irregularly shaped intercalated discs with widened gaps between the two-electron dense desmosomal plates
• myocardial disarray and increased intercellular spaces between myocytes in myocardial regions
• E16.5 and E18.5 hearts show erosion and thinning of the right ventricular wall
• both the left and right ventricles are dilated in 12 week old mice
• right ventricular dilation in E16.5 hearts
• in 12 week old mice
• in 12 week old mice
• increase in end-systolic volumes and decrease in ventricular ejection fraction at 12 weeks of age
• contraction of the ventricles is minimal as indicated by minimal change in the cross-sectional area between end-diastolic and end-systolic frames at midpapillary level
• increase in end-systolic volumes and decrease in stroke volume, ventricular ejection fraction, and cardiac output at 12 weeks of age
• young adult mice show frequent spontaneous runs of nonsustained ventricular tachycardia
• young adult mice show frequent multifocal ventricular ectopy
• heart exhibit features of human arrhythmogenic right ventricular cardiomyopathy

homeostasis/metabolism
• blood clots are seen in E16.5 and E18.5 hearts

muscle
• E16.5 and E18.5 hearts show severe disruption of the myocardial structure, with a variegated pattern of muscle damage
• loss of myocardial integrity that includes the interventricular septum is seen by E18.5
• interaction between the desmin-containing intermediate filaments is disrupted in desmosomes
• intercalated discs of cardiomyocytes show abnormal distribution of proteins
• 12 week old mice show irregularly shaped intercalated discs with widened gaps between the two-electron dense desmosomal plates
• myocardial disarray and increased intercellular spaces between myocytes in myocardial regions
• loss of cardiac muscle in the right ventricular wall
• increase in end-systolic volumes and decrease in ventricular ejection fraction at 12 weeks of age
• contraction of the ventricles is minimal as indicated by minimal change in the cross-sectional area between end-diastolic and end-systolic frames at midpapillary level
• heart exhibit features of human arrhythmogenic right ventricular cardiomyopathy

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
arrhythmogenic right ventricular cardiomyopathy DOID:0050431 OMIM:PS107970
J:220162




Genotype
MGI:5295047
ht3
Allelic
Composition
Ppp1r13ltm1.1Xlu/Ppp1r13l+
Genetic
Background
involves: 129 * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp1r13ltm1.1Xlu mutation (0 available); any Ppp1r13l mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• intermediate in mouse embryonic fibroblasts




Genotype
MGI:5910401
ht4
Allelic
Composition
Ppp1r13ltm1.1Xlu/Ppp1r13l+
Genetic
Background
involves: 129 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ppp1r13ltm1.1Xlu mutation (0 available); any Ppp1r13l mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice exhibit a median survival rate of 57 weeks compared to beyond 90 weeks in wild-type mice





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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
11/12/2024
MGI 6.24
The Jackson Laboratory