Cav3^tm1Mls
Targeted Allele Detail

Summary

• Symbol: Cav3^tm1Mls
• 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: Cav3^tm1Mls page

Cav3^tm1Mls/Cav3^tm1Mls 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 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)

Disease models

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)