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| Nomenclature |
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Symbol:
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Epb4.1tm1Cnby
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Name:
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erythrocyte protein band 4.1;
targeted mutation 1, John G Conboy
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MGI ID: |
MGI:2183903 |
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Synonyms: |
4.1-, 4.1R- |
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Gene:
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Epb4.1
Location:
Chr4:131923413-132075321 bp, - strand
Genetic Position: Chr4,
64.54 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:77852
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Epb4.1 Mutation:
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57 strains or lines available |
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| References |
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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
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All: |
12 reference(s)
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Analysis Tools
