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Epb4.1tm1Cnby
Targeted Allele Detail
Nomenclature
Symbol: Epb4.1tm1Cnby
Name: erythrocyte protein band 4.1; targeted mutation 1, John G Conboy
MGI ID: MGI:2183903
Synonyms: 4.1-, 4.1R-
Gene: Epb4.1  Location: Chr4:131923413-132075321 bp, - strand  Genetic Position: Chr4, 64.54 cM
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 detailsExons 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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 Epb4.1 Mutation:  60 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:  13 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory