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| Nomenclature |
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Symbol:
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Bloc1s6pa
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Name:
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biogenesis of organelles complex-1, subunit 6, pallidin;
pallid
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MGI ID: |
MGI:1856982 |
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Synonyms: |
pa |
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Gene:
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Bloc1s6
Location:
Chr2:122738503-122749475 bp, + strand
Genetic Position: Chr2,
60.66 cM
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Bloc1s6pa/Bloc1s6pa
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: The C to T substitution at nucleotide 787 introduces a premature stop codon in pallid mice. Through Northern analysis, a single mRNA of about 2.5kb was found in reduced levels compared to wild-type. (J:2185, J:64907)
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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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Notes |
Phenotypic Similarity to Human Syndrome: Hermansky-Pudlak Syndrome (J:7946)
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| References |
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Original: |
J:13138
Roberts E,
"A new mutation in the house mouse (Mus musculus)."
Science 1931;74():569
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All: |
61 reference(s)
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Analysis Tools
