Tap2m2Btlr
Chemically induced Allele Detail
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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
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Alliance: |
Tap2m2Btlr page
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Strain of Origin: |
C57BL/6J
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Project Collection: |
Beutler Mutagenetix
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Allele Type: |
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Chemically induced (ENU) (Null/knockout) |
Mutation: |
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Single point mutation
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Mutation details: ENU 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)
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Inheritance: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Tap2 Mutation: |
28 strains or lines available
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Original: |
J:217145 Choi JH, et al., Mutagenetix entry for date. MGI Direct Data Submission. 2015; |
All: |
1 reference(s) |
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