Sgcb^tm1Kcam
Targeted Allele Detail

Summary

• Symbol: Sgcb^tm1Kcam
• Name: sarcoglycan, beta (dystrophin-associated glycoprotein); targeted mutation 1, Kevin P Campbell
• MGI ID: MGI:2153048
• Gene: Sgcb Location: Chr5:73790092-73805080 bp, - strand Genetic Position: Chr5, 38.89 cM
• Alliance: Sgcb^tm1Kcam page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:60154
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A loxP flanked neomycin cassette replaced a genomic fragment that contained exons 3-6. These exons encode part of the transmembrane domain and the extracellular portion of the protein. Northern blot analysis revealed that no transcript was detectable in skeletal muscle of homozygous mice and Western blot and immunohistochemical analysis demonstrated that the protein was absent in the sarcolemma of skeletal muscle derived from homozygous mice. (J:60154)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 4 strains available Cell Lines: 0 lines available
• Carrying any Sgcb Mutation: 22 strains or lines available

References

• Original: J:60154 Durbeej M, et al., Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell. 2000 Jan;5(1):141-51
• All: 17 reference(s)