Atp2b2m1Btlr
Chemically induced Allele Detail
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Symbol: |
Atp2b2m1Btlr |
Name: |
ATPase, Ca++ transporting, plasma membrane 2; mutation 1, Bruce Beutler |
MGI ID: |
MGI:5640789 |
Synonyms: |
lohan |
Gene: |
Atp2b2 Location: Chr6:113720803-114019574 bp, - strand Genetic Position: Chr6, 52.85 cM
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Alliance: |
Atp2b2m1Btlr 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) |
Mutation: |
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Single point mutation
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Mutation details: The mutation is a T to C transition at base pair 113,760,650 (v38) on chromosome 6, or base pair 281,964 in the GenBank genomic region NC_000072. The mutation corresponds to residue 3,402 in the mRNA sequence NM_009723 (variant 1) within exon 18 of 22 total exons and residue 3,213 in the mRNA sequence NM_001036684 (variant 2) within exon 16 of 20 total exons, and residue 3,520 in the cDNA transcript ENSMUST00000101044 (variant 3) within exon 20 of 24 total exons. The mutation results in a leucine (L) to proline (P) substitution at position 925 (L925P) in isoform 1 and 2 and L970P in isoform 3 of the encoded isoforms.
(J:221473)
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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 Atp2b2 Mutation: |
66 strains or lines available
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Original: |
J:221473 SoRelle J, et al., Mutagenetix entry for lohan. MGI Direct Data Submission. 2015; |
All: |
1 reference(s) |
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