Hps3coa-2Btlr
Chemically induced Allele Detail
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Symbol: |
Hps3coa-2Btlr |
Name: |
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa 2 Bruce Beutler |
MGI ID: |
MGI:5515379 |
Synonyms: |
blue |
Gene: |
Hps3 Location: Chr3:20050109-20089478 bp, - strand Genetic Position: Chr3, 6.12 cM
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Alliance: |
Hps3coa-2Btlr page
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Gray coat color of the homozygous Hps3coa-2Btlr mouse
Show the 1 phenotype image(s) involving this allele.
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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: ENU mutagenesis induced a T to G transversion at base pair 20030796 (v38) on chromosome 3 in the
GenBank genomic region NC_000069. The mutation corresponds to residue 272 in the mRNA sequence NM_080634 within exon 2 of 17 total exons. The mutation results in a leucine (L) to arginine (R) substitution at residue 76.
(J:201725)
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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 Hps3 Mutation: |
54 strains or lines available
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Original: |
J:201725 Purrington T, et al., Direct data submission for blue. MGI Direct Data Submission. 2013; |
All: |
1 reference(s) |
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