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| Nomenclature |
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Symbol:
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Ap3b1pe-rim2
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Name:
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adaptor-related protein complex 3, beta 1 subunit;
recombination induced remutation 2
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MGI ID: |
MGI:1857352 |
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Gene:
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Ap3b1
Location:
Chr13:94358960-94566316 bp, + strand
Genetic Position: Chr13,
49.22 cM
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Abnormal eye pigmentation of the Ap3b1pe-rim2/Ap3b1pe-rim2 mouse.
Show the 1 image(s) involving this allele.
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Mutation origin |
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Strain of Origin:
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B10.A(R201)
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Mutation description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Undefined |
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Mutation details: Arose spontaneously in the B10.A(R201) strain in 1985. A non-complementation test confirmed that this mutation is allelic to the pearl mutation. The molecular lesion in this allele has not yet been resolved.
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:42685
Sagai T et al.,
"rim2 (recombination induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak Syndrome (HPS): genetic and physical mapping"
Mamm Genome 1997;9(1):2-7
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All: |
1 reference(s)
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