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Tap2m2Btlr
Chemically induced Allele Detail
Summary
Symbol: Tap2m2Btlr
Name: transporter 2, ATP-binding cassette, sub-family B (MDR/TAP); mutation 2, Bruce Beutler
MGI ID: MGI:5613166
Synonyms: date
Gene: Tap2  Location: Chr17:34423453-34435295 bp, + strand  Genetic Position: Chr17, 17.98 cM
Alliance: Tap2m2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T to A transversion at base pair 34,212,354 (v38) on chromosome 17, or base pair 8,270 in the GenBank genomic region NC_000083. The mutation corresponds to residue 1,418 in the mRNA sequence NM_011530 within exon 7 of 12 total exons. The mutation results in a valine (V) to aspartic acid (D) substitution at position 422 (V422D), and is strongly predicted by Polyphen-2 to cause loss of function (score = 0.989). (J:217145)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Tap2 Mutation:  28 strains or lines available
References
Original:  J:217145 Choi JH, et al., Mutagenetix entry for date. MGI Direct Data Submission. 2015;
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
12/10/2024
MGI 6.24
The Jackson Laboratory