Cav3tm1Mls
Targeted Allele Detail
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Symbol: |
Cav3tm1Mls |
Name: |
caveolin 3; targeted mutation 1, Michael P Lisanti |
MGI ID: |
MGI:2180558 |
Synonyms: |
cav-3-, CAV3 - |
Gene: |
Cav3 Location: Chr6:112436466-112449833 bp, + strand Genetic Position: Chr6, 52.26 cM, cytoband E1
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Alliance: |
Cav3tm1Mls page
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Cav3tm1Mls/Cav3tm1Mls hearts display progressive left ventricular wall thickening
Show the 5 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:69965
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Parent Cell Line: |
WW6 (ES Cell)
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Strain of Origin: |
STOCK 129/Sv and C57BL/6J and SJL
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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Insertion, Intragenic deletion
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Mutation details: Exon 2, which codes the all of the functional domains, was replaced by a neomycin selection cassette. Protein expression was undetectable via western blot analysis of lysates from skeletal muscle, heart, and lung tissues obtained from homozygous mutant mice.
(J:69965)
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Key: |
hm |
homozygous |
ht |
heterozygous |
tg |
involves transgenes |
√ |
phenotype observed |
cn |
conditional genotype |
cx |
complex: > 1 genome feature |
ot |
other: hemizygous, indeterminate,... |
N |
normal phenotype |
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Genotype/ Background: |
| Allelic Composition | Genetic Background | Cell Line(s) |
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Loading... | | | involves: 129/Sv * C57BL/6J * SJL | | | | involves: 129/Sv * C57BL/6J * SJL | |
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Phenotypes: |
Affected Systems |
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cardiovascular system
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abnormal myocardial fiber morphology
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myocardial fiber disarray
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thick interventricular septum
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increased heart weight
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cardiac hypertrophy
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heart left ventricle hypertrophy
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increased heart left ventricle wall thickness
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dilated heart left ventricle
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increased heart right ventricle wall thickness
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cardiac fibrosis
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cardiac interstitial fibrosis
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decreased heart ventricle muscle contractility
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decreased heart left ventricle muscle contractility
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cardiomyopathy
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heart inflammation
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cellular
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cardiac interstitial fibrosis
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absent caveolae
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growth/size/body
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increased heart weight
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cardiac hypertrophy
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heart left ventricle hypertrophy
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homeostasis/metabolism
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increased circulating creatine kinase level
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immune system
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heart inflammation
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muscle
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muscle phenotype
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N
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abnormal myocardial fiber morphology
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myocardial fiber disarray
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heart left ventricle hypertrophy
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decreased heart ventricle muscle contractility
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decreased heart left ventricle muscle contractility
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cardiomyopathy
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abnormal sarcolemma morphology
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abnormal skeletal muscle fiber morphology
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increased variability of skeletal muscle fiber size
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skeletal muscle fiber necrosis
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dystrophic muscle
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myopathy
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View phenotypes and curated references for all genotypes (concatenated display).
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Key: |
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disease model |
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![](https://www.informatics.jax.org/webshare/images/notSymbol.gif) |
expected model not found |
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Models:
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Human Diseases |
IDs
rippling muscle disease 2
Close
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Cav3 Mutation: |
24 strains or lines available
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Original: |
J:69965 Galbiati F, et al., Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities. J Biol Chem. 2001 Jun 15;276(24):21425-33 |
All: |
15 reference(s) |
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