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Slc4a1tm1Phsl
Targeted Allele Detail
Summary
Symbol: Slc4a1tm1Phsl
Name: solute carrier family 4 (anion exchanger), member 1; targeted mutation 1, Philip S Low
MGI ID: MGI:4357799
Synonyms: band-3-
Gene: Slc4a1  Location: Chr11:102239646-102256107 bp, - strand  Genetic Position: Chr11, 66.29 cM, cytoband D
Alliance: Slc4a1tm1Phsl page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:152245
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation details33 base-pairs that encode a beta-hairpin loop were deleted from exon 7. A floxed neomycin cassette was included downstream of exon 4 for targeting purposes. Correct targeting was confirmed by genomic PCR. RNA Expression of the locus was 8% of normal in homozgyote bone marrow. The 11-amino acid beta-hairpin loop in the cytoplasmic domain of the protein product is responsible for ankyrin binding in erythrocytes. (J:152245)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 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 Slc4a1 Mutation:  54 strains or lines available
References
Original:  J:152245 Anong WA, et al., Adducin forms a bridge between the erythrocyte membrane and its cytoskeleton and regulates membrane cohesion. Blood. 2009 Aug 27;114(9):1904-12
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory