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Cav3tm1Mls
Targeted Allele Detail
Summary
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
Alliance: Cav3tm1Mls page
Cav3tm1Mls/Cav3tm1Mls hearts display progressive left ventricular wall thickening

Show the 5 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:69965
Parent Cell Line:  WW6 (ES Cell)
Strain of Origin:  STOCK 129/Sv and C57BL/6J and SJL
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 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)
Phenotypes
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
Genotype/
Background:
Allelic Composition
Genetic Background
Cell Line(s)
hm1  Disease Model
involves: 129/Sv * C57BL/6J * SJL
 
involves: 129/Sv * C57BL/6J * SJL
 
Phenotypes:
Affected Systems
show or hide all annotated terms
   
cardiovascular system
abnormal myocardial fiber morphology
myocardial fiber disarray
thick interventricular septum
increased heart weight
cardiac hypertrophy
heart left ventricle hypertrophy
increased heart left ventricle wall thickness
dilated heart left ventricle
increased heart right ventricle wall thickness
cardiac fibrosis
cardiac interstitial fibrosis
decreased heart ventricle muscle contractility
decreased heart left ventricle muscle contractility
cardiomyopathy
heart inflammation
cellular
cardiac interstitial fibrosis
absent caveolae
growth/size/body
increased heart weight
cardiac hypertrophy
heart left ventricle hypertrophy
homeostasis/metabolism
increased circulating creatine kinase level
immune system
heart inflammation
muscle
muscle phenotype
N
abnormal myocardial fiber morphology
myocardial fiber disarray
heart left ventricle hypertrophy
decreased heart ventricle muscle contractility
decreased heart left ventricle muscle contractility
cardiomyopathy
abnormal sarcolemma morphology
abnormal skeletal muscle fiber morphology
increased variability of skeletal muscle fiber size
skeletal muscle fiber necrosis
dystrophic muscle
myopathy
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Key:
disease model   expected model not found
Models:
Human Diseases
hm1
IDs
Expression
In Mice Carrying this Mutation: 2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 7 anatomical structure(s)
Find Mice (IMSR)
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
Carrying any Cav3 Mutation:  24 strains or lines available
References
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)

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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Funding Information
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last database update
12/17/2024
MGI 6.24
The Jackson Laboratory