Adamts20m3Btlr
Chemically induced Allele Detail
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Symbol: |
Adamts20m3Btlr |
Name: |
ADAM metallopeptidase with thrombospondin type 1 motif 20; mutation 3, Bruce Beutler |
MGI ID: |
MGI:5607745 |
Synonyms: |
pikachu |
Gene: |
Adamts20 Location: Chr15:94166177-94329966 bp, - strand Genetic Position: Chr15, 48.2 cM
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Alliance: |
Adamts20m3Btlr 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) (Not Specified) |
Mutation: |
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Single point mutation
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Mutation details: The molecular lesion is a T to A transversion at base pair 94,345,990 (v38) on chromosome 15 or base pair 119,429 in the GenBank genomic region NC_000081. This corresponds to nucleotide (nt) 2,116 in the mRNA sequence NM_177431 (isoform 1), within exon 13 of 39 total exons, and to nt 2,116 in the mRNA sequence NM_00164785 (isoform 2), within exon 13 of 28 total exons. The mutation results in a cysteine (C) to serine (S) substitution at amino acid position 619 (C619S) in both Adamts20 protein variants.
(J:216051)
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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 Adamts20 Mutation: |
93 strains or lines available
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Original: |
J:216051 Reyna C, et al., Mutagenetix entry for pikachu. Updated on December 16, 2014. MGI Direct Data Submission. 2014; |
All: |
1 reference(s) |
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