Epb41^tm1Cnby
Targeted Allele Detail

Summary

• Symbol: Epb41^tm1Cnby
• Name: erythrocyte membrane protein band 4.1; targeted mutation 1, John G Conboy
• MGI ID: MGI:2183903
• Synonyms: 4.1^-, 4.1R^-
• Gene: Epb41 Location: Chr4:131650724-131802632 bp, - strand Genetic Position: Chr4, 64.54 cM
• Alliance: Epb41^tm1Cnby page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:77852
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exons 2 through 4 were replaced with a cassette containing beta-galactosidase and neomycin resistance genes. The deleted region contained two start codons encoding high-molecular weight isoforms and 80kD isoforms in exons 2 and 4, respectively. Transcript was undetected by Northern blot analysis using a carboxy terminal coding sequence probe. An 80kD protein was detected in wild-type but not in homozygous mutant mice via Western blot analysis. (J:77852)

Disease models

Expression

In Structures Affected by this Mutation:

4 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 Epb41 Mutation: 95 strains or lines available

References

• Original: J:77852 Shi ZT, et al., Protein 4.1R-deficient mice are viable but have erythroid membrane skeleton abnormalities. J Clin Invest. 1999 Feb;103(3):331-40
• All: 17 reference(s)